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Rere-Related Disorders GeneReviews

RERE -related disorders are inherited in an autosomal dominant manner and are typically caused by a de novo pathogenic variant. ... Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. ... Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to the whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes (e.g., those with a larger 1p36 deletion) may not be detected by these methods. 6. ... This suggests that some changes in this domain may represent dominant negative alleles. The c.4313_4318dupTCCACC, p. ... See OMIM Phenotypic Series: Autosomal dominant ID, Autosomal recessive ID, Nonsyndromic X-linked ID, and Syndromic X-linked ID.
Minamata Disease Wikipedia

A congenital form of the disease can also affect fetuses in the womb. Minamata disease was first discovered in the city of Minamata , Kumamoto Prefecture , Japan, in 1956. ... Chisso paid the cooperative ¥ 20 million (US$183,477) and set up a ¥15 million ($137,608) fund to promote the recovery of fishing. Protestors at the gates of the Chisso factory ( W. ... In most people's minds, the issue of Minamata disease had been resolved. 1959–1969 [ edit ] The years between the first set of "sympathy money" agreements in 1959 and the start of the first legal action to be taken against Chisso in 1969 are often called the "ten years of silence". ... Former Chisso President Kiichi Yoshioka admitted that the company promoted a theory of dumped World War II explosives, though it knew it to be unfounded. ... One photographer who arrived in 1960 was Shisei Kuwabara , straight from university and photo school, who had his photographs published in Weekly Asahi as early as May 1960. The first exhibition of his photographs of Minamata was held in the Fuji Photo Salon in Tokyo in 1962, and the first of his book-length anthologies, Minamata Disease , was published in Japan in 1965.

JUN, S100B
- Fetal Methylmercury Syndrome Orphanet
  
  A rare disorder characterized by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury. Epidemiology Accidents have led to the birth of about 800 affected children worldwide over the last 50 years. Clinical description In the late-1950s, methylmercury toxicity became highly publicised after an outbreak of cerebral palsy and microcephaly in newborns from the fishing village of Minimata Bay, Japan. These abnormalities were caused by methylmercury contamination of fish in the bay, and were termed Minimata Disease. Similar intoxications also occurred in Iraq after seeds contaminated with methylmercury were mistakenly used to make bread.
Cyclothymia (Cyclothymic Disorder) Mayo Clinic

If you're reluctant to seek treatment, work up the courage to confide in someone who can help you take that first step. If a loved one has symptoms of cyclothymia, talk openly and honestly with that person about your concerns. ... Talk to your doctor if you have trouble quitting on your own. Check first before taking other medications. ... Do you have printed material that I can have? What websites do you recommend? Don't hesitate to ask any other questions. ... How have the people close to you described your symptoms? When did you or your loved ones first notice these symptoms? Have your symptoms been getting better or worse over time?
Agoraphobia Mayo Clinic

The therapist may offer to see you first in your home or meet you in what you consider a safe place. ... Key personal information, especially any major stress or life changes that you had around the time your symptoms first started. Medical information, including other physical or mental health conditions that you have. ... Are there any printed materials that I can have? What websites do you suggest? Feel free to ask other questions during your appointment. What to expect from your doctor Your health care provider or mental health provider will likely ask you a number of questions, such as: What symptoms do you have that concern you? When did you first notice these symptoms? When are your symptoms most likely to occur?

CREBBP, SGCE, EP300, ADORA2A, GLRB, SCLY, TAL1, KRT7, HTR1A, GAD1, GRP, MIR22, NPSR1, TPH2, BDNF, CAMKK2, CRH, CRP, SLC6A4, SLC6A2, P2RX7, NPY, MAOA, ACE, OPN1SW, HCRTR1, HCRT, GRPR, MIR491
- Agoraphobia Wikipedia
  
  They may become disoriented when visual cues are sparse (as in wide-open spaces) or overwhelming (as in crowds). [17] Likewise, they may be confused by sloping or irregular surfaces. [17] In a virtual reality study, agoraphobics showed impaired processing of changing audiovisual data in comparison with subjects without agoraphobia. [18] Substance induced [ edit ] Chronic use of tranquilizers and sleeping pills such as benzodiazepines has been linked to onset of agoraphobia. [19] In 10 patients who had developed agoraphobia during benzodiazepine dependence , symptoms abated within the first year of assisted withdrawal. [20] Similarly, alcohol use disorders are associated with panic with or without agoraphobia; this association may be due to the long-term effects of alcohol consumption causing a distortion in brain chemistry. [21] Tobacco smoking has also been associated with the development and emergence of agoraphobia, often with panic disorder; it is uncertain how tobacco smoking results in anxiety-panic with or without agoraphobia symptoms, but the direct effects of nicotine dependence or the effects of tobacco smoke on breathing have been suggested as possible causes. ... This article incorporates public domain material from websites or documents of the National Institute of Mental Health .
Truncus Arteriosus Mayo Clinic

Symptoms Symptoms of truncus arteriosus usually occur in the first few days of life. They include: Blue or gray skin due to low oxygen levels. ... Surgery or other procedures Most infants with truncus arteriosus have surgery within the first few weeks after birth. The specific type of surgery depends on the baby's condition. ... If you've had truncus arteriosus repair surgery and want to become pregnant, talk to your health care provider first about the possible risks and complications. ... Are there any brochures or other printed material that I can have? What websites do you recommend? Don't hesitate to ask other questions.

NKX2-6, PLXND1, SEMA3C, TBX1, GATA6, GJA8, PUF60, GP1BB, UFD1, MAPK1, GJA5, DLL4, HIRA, TMEM260, CRKL, NKX2-5, ARVCF, BCR, RREB1, COMT, NEK8, SEC24C, JMJD1C, FGFR3, APOE, GATA4, TP53, UGCG, NRP1, VEGFA, ZMYM2, TSC1, A1BG, RBX1, STUB1, TMEFF2, NOC2L, TGFA, KRT20, ZIC4, NRG4, PTCRA, C17orf97, MBOAT4, TNF, PTEN, TBX3, TBX2, PRDM1, CDKN2A, CRP, CTNNB1, CTSE, ERBB3, EREG, F11, FOXO1, GATA2, GDF1, GCLC, IL1B, ISL1, MEF2C, MET, COX2, NHS, NME1, NT5E, PAX3, PAX5, PAX6, PRKD1, PTH, PTGS2, RET, MTCO2P12
- Persistent Truncus Arteriosus Wikipedia
  
  See also: Truncus arteriosus Persistent truncus arteriosus Other names Patent truncus arteriosus or Common arterial trunk Illustration of truncus arteriosus Specialty Medical genetics Persistent truncus arteriosus ( PTA ) [1] is a rare form of congenital heart disease that presents at birth. In this condition, the embryological structure known as the truncus arteriosus fails to properly divide into the pulmonary trunk and aorta . This results in one arterial trunk arising from the heart and providing mixed blood to the coronary arteries , pulmonary arteries , and systemic circulation . [2] Contents 1 Causes 2 Pathophysiology 3 Diagnosis 3.1 Classification 4 Treatment 5 Epidemiology 6 Additional images 7 See also 8 References 9 External links Causes [ edit ] Most of the time, this defect occurs spontaneously. Genetic disorders , and teratogens (viruses, metabolic imbalance, and industrial or pharmacological agents) have been associated as possible causes. Up to 50% (varies in studies) of cases are associated with chromosome 22q 11 deletions ( DiGeorge Syndrome ).
- Truncus Arteriosus Orphanet
  
  Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. ... Tachypnea, tachycardia, excessive sweating, poor feeding may be the first signs to appear. Etiology The etiology of TA remains unknown.
Hemolytic Disease Of The Newborn (Anti-Rhc) Wikipedia

Acute hemolytic transfusion reactions due to immune hemolysis may occur in patients who have no antibodies detectable by routine laboratory procedures." [12] Causes [ edit ] A Rhc negative mother can become sensitised by red blood cell (RBC) Rhc antigens by her first pregnancy with a Rhc positive fetus. ... The first is that of alloimmunization to the c, E, or, C antigens. ... However, if the patient presents in the first trimester with a 1:8 titer that remains stable at 1:8 throughout the second trimester, continued serial antibody titers are appropriate. ... "Iron status in infants with alloimmune haemolytic disease in the first three months of life". Vox Sanguinis . 105 (4): 328–33. doi : 10.1111/vox.12061 . ... PMID 21512623 . ^ Scheffer, PG; Van Der Schoot, CE; Page-Christiaens, Gcml; De Haas, M (2011).
Nasal Septum Perforation Wikipedia

For perforations that bleed or are painful, initial management should include humidification and application of salves to the perforation edges to promote healing. Mucosalization of the perforation edges will help prevent pain and recurrent epistaxis and majority of septal perforations can be managed without surgery. ... Classically, a graft from the scalp utilizing temporalis fascia was used. Kridel, et al., first described the usage of acellular dermis so that no further incisions are required; they reported an excellent closure rate of over 90 percent.
Abortion In Liechtenstein Wikipedia

Section 98 of the Penal Code additionally criminalizes performing or encouraging an abortion without a careful inquiry into its medical necessity as well as any type of promotion of abortion services. [3] Until the Criminal Code was amended in 2015, the exception for rape only applied if the woman was under 14 years old. [4] In the double referendum on abortion on 27 November 2005, 81% of voters rejected a "For Life" proposal to prohibit all abortion, while 80% passed the Landtag 's counter-proposal, which had been condemned by anti-abortion campaigners. [5] [6] [7] [8] A proposal to legalize abortion in the first 12 weeks of pregnancy or when the child would be disabled was defeated by 52.3% of voters in the 2011 referendum held on 18 September. [9] Prince Alois had previously threatened to veto the proposal if it passed. [10] [11] Women in Liechtenstein who choose to have an abortions must cross the border to either Switzerland or Austria to have the procedure carried out legally. [12] Women must also travel to those countries to obtain advice on their options, as they face the threat of prosecution at home. [13] It is estimated that approximately 50 women a year have abortions, either illegally in Liechtenstein or abroad in either Switzerland or Austria. [14] See also [ edit ] Healthcare in Liechtenstein References [ edit ] ^ "Schwangerschaftsabbruch: Status quo unverändert" [Abortion: Status quo unaltered].
Mn1 C-Terminal Truncation Syndrome GeneReviews

Genetic counseling. MCTT syndrome is an autosomal dominant disorder typically caused by a de novo MN1 pathogenic variant. ... Sequence analysis of MN1 is performed first to detect small intragenic deletions/insertions and missense, nonsense, and splice site variants. Note: Depending on the sequencing method used, single-exon, multiexon, or whole-gene deletions/duplications may not be detected. ... Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. ... Feeding difficulties are more prominent early in infancy and may resolve after the first year of life. Hyperphagia has also been reported in three children [Miyake et al 2020].
- Mn1 C-Terminal Truncation Syndrome MedlinePlus
  
  Learn more about the gene associated with MN1 C-terminal truncation syndrome MN1 Inheritance Pattern MCTT syndrome is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Lmna-Related Dilated Cardiomyopathy GeneReviews

LMNA -related DCM is inherited in an autosomal dominant manner. Some individuals diagnosed with LMNA -related DCM have an affected parent; the proportion of cases caused by a de novo pathogenic variant is unknown. ... Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. ... In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. ... In the report of Brodt et al, the progression from first observed conduction system disease to the onset of ventricular dysfunction in a subset of 64 individuals with LMNA variants was a median of seven years [Brodt et al 2013]. ... If molecular genetic testing is not possible, the first-degree relatives of a proband with LMNA -related DCM should be evaluated annually by medical history, physical examination, echocardiogram, and ECG to determine if any have detectable DCM and/or conduction system disease.
Narcissistic Personality Disorder Wikipedia

While narcissists are preoccupied with attempting to belittle others, megalomaniacs believe they have already dominated others, and need to maintain the domination. ... Archived from the original on 11 January 2017 – via Google Books. ^ O'Donohue, William (2007). ... Archived from the original on 8 September 2017 – via Google Books. ^ Karterud, Sigmund; Øien, Maria; Pedersen, Geir (September–October 2011). ... ISBN 978-1608827602 . LCCN 2013014290 . ( first edition available on the Internet Archive ) Brown, Nina W. (2008). ... ISBN 978-1572245617 . LCCN 2008002242 . ( first edition available on the Internet Archive ) Hotchkiss, Sandy (2003).
- Narcissistic Personality Disorder Mayo Clinic
  
  Are there any brochures or other printed materials that I can have? What websites do you recommend? Don't hesitate to ask any other questions during your appointment.
Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form GeneReviews

Sequence analysis of TK2 detects small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Perform sequence analysis first. If only one or no pathogenic variant is found perform gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications. ... Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. ... Some affected individuals have elevated serum concentrations of aminotransferases and CK in the first year of life. Note: The observed elevation in serum transaminases may reflect skeletal muscle involvement [Zhang et al 2010]. ... Pompe disease is characterized by progressive proximal muscle weakness early in the first few months of life accompanied with hypertrophic cardiomyopathy.
Spermatogenic Failure 31 OMIM

Molecular Genetics In 2 infertile brothers with oligozoospermia and acephalic spermatozoa from a consanguineous Chinese family, Zhu et al. (2018) performed whole-exome sequencing and identified homozygosity for a nonsense mutation in the PMFBP1 gene (Q488X; 618085.0001). ... The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, were not present in the 1000 Genomes Project database and were present at low frequencies in the ExAC database.

SUN5, PMFBP1, NR2E1, DNAJB13
- Spermatogenic Failure 16 OMIM
  
  Molecular Genetics In 2 unrelated Chinese men with infertility due to acephalic spermatozoa, Zhu et al. (2016) performed whole-exome sequencing and identified missense mutations in the SUN5 gene: a homozygous mutation (T275M; 613942.0001) in one, and compound heterozygous mutations (R356C, 613942.0002; M162K, 613942.0003) in the other.
Isolated Epispadias Orphanet

In females, epispadias can be severe (with a cleft involving the whole urethra and the bladder neck, together with bladder mucosal prolapse), intermediate, or mild (with a gaping meatus). ... Differential diagnosis The typical clinical picture does not generally implicate any further differential diagnosis; however, epispadias is also a feature of the whole EEC spectrum (see this term). Antenatal diagnosis Prenatal diagnosis by ultrasound examination is very rare in patients with isolated epispadias due to the minor ultrasound features.

SRY, ORC4, CDT1, PIEZO2, NDUFB11, DYNC2LI1, GMNN, C2CD3, ORC6, PTDSS1, TP63, CDC45, WNT5A, CDC6, EVC2, ORC1, SMAD4, KRAS, ISL1, HCCS, GLI1, FZD2, EVC, DVL3, DVL1, COX7B, TGFB1, CCN1, PARM1, AR
Retinitis Pigmentosa 81 OMIM

The mutation was not found in 150 ethnicity-matched controls or in 800 other controls, and screening whole-exome or whole-genome data from 1,771 and 120 patients, respectively, from pedigrees with inherited retinal diseases did not identify any additional mutations in the IFT43 gene.

IFT43
Usher Syndrome, Type Iv OMIM

Mapping By homozygosity mapping followed by whole-genome and whole-exome sequencing in 3 Yemenite Jewish families segregating an atypical form of Usher syndrome, Khateb et al. (2018) identified a single shared homozygous 66- to 69.4-Mb region on chromosome 17.

ARSG
Basal Cell Carcinoma Mayo Clinic

Questions may include: When did you first notice this skin growth or lesion? Has it changed since you first noticed it? Is the growth or lesion painful? ... Treatment selection can also depend on whether this is a first-time or a recurring basal cell carcinoma. ... Your doctor may ask: When did you first notice this skin growth or lesion? Has it grown significantly since you first found it? Is the growth or lesion painful?

PTCH1, SMO, XPA, ERCC2, DDB2, RASA1, XPC, ERCC5, ERCC4, ERCC3, STAT5B, TP53, MC1R, TYR, UBAC2, COLEC10, RGS22, ATP11A, KANK1, RALY, ZNF365, SMC2, EXO1, FOXP1, HERC2, SPATA48, ZFHX4-AS1, FOXP1-IT1, LINC00513, TRPS1, PTPN22, EFEMP2, CCDC88B, ZBTB7B, PPARGC1B, FLACC1, JDP2, PADI6, SLC6A17, CASC15, CDKN2B-AS1, CLPTM1L, STN1, TNS3, BACH2, SCAF1, RCC2, TGM3, HAUS6, CPVL, SLC45A2, FRMD4A, FGF10-AS1, IRF4, CTSH, HLA-B, LPP, GPR183, CYP1B1, RAC1, HAL, CTSS, CASP8, BRCA2, KRT5, GPX4, GLI1, VEGFA, CDKN2A, PTGS2, CXCL8, ING1, IL6, IGF1R, STAT3, GLI2, EGFR, EDN1, ITGAV, ATF2, RUNX3, BMP4, TYMP, KRT15, FOXP3, BMP2, TGFB1, TGFBR2, SOX9, TNF, CXCL12, CCL5, S100A6, WNT1, LGR5, TP63, CFLAR, PRKCA, PLAGL1, NDUFA1, MYCN, MUC1, MSH3, MCL1, LGALS7, KRT19, GREM1, ASIP
3-Methylglutaconic Aciduria, Type Iii OMIM

A number sign (#) is used with this entry because 3-methylglutaconic aciduria type III, also known as autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, is caused by mutation in the OPA3 gene (606580). See also autosomal dominant optic atrophy-3 (165300), an allelic disorder with a less severe phenotype. ... Clinical Features Costeff et al. (1989) described 19 patients with a familial syndrome consisting of infantile optic atrophy and an early-onset extrapyramidal movement disorder dominated by chorea. About half the patients developed spastic paraparesis during the second decade of life. ... Parental consanguinity was identified in 4 of the 10 sibships; 2 instances of first-cousin parents and 2 instances of first cousins once removed were observed. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Optic atrophy - Decreased visual acuity NEUROLOGIC Central Nervous System - Ataxia - Spasticity - Hyperreflexia - Extensor plantar responses - Extrapyramidal signs - Choreiform movements - Cognitive defects (variable from mild to severe) - Dysarthria LABORATORY ABNORMALITIES - Increased urinary 3-methylglutaconic acid MISCELLANEOUS - Onset of optic atrophy in infancy or early childhood - Neurologic features occur later in childhood - Increased prevalence in individuals of Jewish-Iraqi origin - Allelic disorder to autosomal dominant optic atrophy and cataract ( 165300 ) MOLECULAR BASIS - Caused by mutation in the OPA3 gene (OPA3, 606580.0001 ) ▲ Close

OPA3, MICOS13, TIMM8A, DMPK, FXN, OPA1, SPG7, TAZ, ATRN, MFN2, KIF1B, SERAC1
- Costeff Syndrome GeneReviews
  
  Optic atrophy is associated with progressive decrease in visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. ... Sequence analysis of OPA3 is performed first to detect small intragenic deletions/insertions and missense, nonsense, and splice site variants. Note: Depending on the sequencing method used, single-exon, multiexon, or whole-gene deletions/duplications may not be detected. ... Optic Atrophy Optic atrophy manifests as decreased visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. ... Dilated cardiomyopathy presents within the first year of life or even prenatally [Barth et al 2004].
- Costeff Syndrome MedlinePlus
  
  Costeff syndrome is an inherited condition characterized by vision loss, delayed development, and movement problems. Vision loss is primarily caused by degeneration (atrophy) of the optic nerves , which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision impairment that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus). Development of motor skills, such as walking, is often delayed in people with Costeff syndrome.
- 3-Methylglutaconic Aciduria Type 3 Orphanet
  
  The choreoathetoid movement disorder manifests later, usually within the first ten years of life. Other clinical features may include spastic paraparesis, mild ataxia and cognitive deficit, dysarthria, and nystagmus.
- Costeff Syndrome Wikipedia
  
  Costeff syndrome , or 3-methylglutaconic aciduria type III , is a genetic disorder caused by mutations in the OPA3 gene. [1] It is typically associated with the onset of visual deterioration ( optic atrophy ) in early childhood followed by the development of movement problems and motor disability in later childhood, occasionally along with mild cases of cognitive deficiency. [2] The disorder is named after Hanan Costeff , the doctor who first described the syndrome in 1989. [3] Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 See also 8 References 9 External links Signs and symptoms [ edit ] The characteristic symptom of Costeff syndrome is the onset of progressively worsening eyesight caused by degeneration of the optic nerve ( optic atrophy ) within the first few years of childhood, with the majority of affected individuals also developing motor disabilities later in childhood. [4] Occasionally, people with Costeff syndrome may also experience mild cognitive disability. [5] It is type of 3-methylglutaconic aciduria , the hallmark of which is an increased level in the urinary concentrations of 3-methylglutaconic acid and 3-methylglutaric acid; this can allow diagnosis as early as at one year of age. [2] Those with Costeff syndrome typically experience the first symptoms of visual deterioration within the first few years of childhood, which manifests as the onset of progressively decreasing visual acuity . ... However, nearly all reported cases of Costeff syndrome has been in individuals of Iraqi Jewish origin, all of whom share the same splice site founder mutation . [2] In particular, this founder mutation is a G-to-C mutation of a single nucleotide (see single-nucleotide polymorphism ) which interferes with gene expression levels of OPA3 . [2] Though the mutation is the same within this population, the severity of symptoms varies with the individual. [5] To date, there have only been two reported cases of Costeff syndrome not due to the founder mutation, each of which was due to a different pathogenic variants (mutation). [9] [10] Two other OPA3 mutations have also been reported which result in a rare dominant genetic disorder with symptoms similar to Costeff syndrome. [11] Diagnosis [ edit ] Costeff syndrome can be diagnosed by the presence of increased levels of 3-methylglutaconic acid in the urine, or 3-methylglutaconic aciduria . [12] Treatment [ edit ] There is currently no cure for Costeff syndrome. ... The resulting visual impairment, spasticity, and movement disorders are treated in the same way as similar cases occurring in the general population. [5] Prognosis [ edit ] The long-term prognosis of Costeff syndrome is unknown, though it appears to have no effect on life expectancy at least up to the fourth decade of life. [2] However, as mentioned previously, movement problems can often be severe enough to confine individuals to a wheelchair at an early age, and both visual acuity and spasticity tend to worsen over time. Epidemiology [ edit ] First described in 1989, Costeff syndrome has been reported almost exclusively in individuals of Iraqi Jewish origin with only two exceptions, one of whom was a Turkish Kurdish, with the other being of Indian descent. [9] [10] Within the Iraqi Jewish population, the carrier frequency of the founder mutation is about 1/10, with the prevalence of Costeff syndrome itself estimated at anywhere between 1 in 400 and 1 in 10,000. [2] [3] See also [ edit ] List of systemic diseases with ocular manifestations Behr syndrome 3-Methylglutaconic aciduria Mitochondrial Disorders Optic Atrophy Costeff Syndrome References [ edit ] ^ Reference, Genetics Home. ... "OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract" . Journal of Medical Genetics . 41 (9): â€“110. doi : 10.1136/jmg.2003.016576 .
Squamous Cell Carcinoma, Head And Neck OMIM

Mutation in Genes Involved in Squamous Differentiation To explore the genetic origins of head and neck squamous cell carcinoma, Agrawal et al. (2011) used whole-exome sequencing and gene copy number analyses to study 32 primary tumors. ... Stransky et al. (2011) independently analyzed whole-exome sequencing data from 74 tumor-normal pairs. ... They showed that HPV-associated tumors are dominated by helical domain mutations of the oncogene PIK3CA, novel alterations involving loss of TRAF3 (601896), and amplification of the cell cycle gene E2F1 (189971).

PTEN, ING1, PIK3CA, TP53, EGFR, CDKN2A, NFE2L2, CCND1, PTGS2, STAT3, MET, AKT1, NOTCH1, CDK4, MGMT, YAP1, IGF1, IL1A, CASP8, WEE1, CDK2, SOD2, CCNA1, ABCC1, TNFRSF10B, ABCB1, ATP7B, CDK6, ABCG2, HOXD10, ABCC2, KISS1, IL1RAP, ING3, MERTK, TSC2, CCNE1, IRS1, CCNB1, CCNA2, NDRG1, CCNE2, TBCK, MAPK9, IFNL3, TNNI3K, HOXA5, HOXD11, NSDHL, NAMPT, VAMP7, MIR222, MAPK1, SMAD4, CTNNB1, ERBB2, HRAS, FGFR3, BRAF, FBXW7, CREBBP, MAP2K1, EP300, RAC1, MTOR, HGF, UVRAG, HIF1A, XRCC1, PDCD1, H3C11, GSTT1, CD44, GSTP1, ANO1, GSTM1, CKAP4, VIM, VEGFA, CTLA4, IDH2, MMP2, TGFA, MIR21, TGFB1, PIK3CB, CYP1A1, TNF, MLH1, KRAS, ERCC1, U2AF1, EGF, MMP9, IL6, CTTN, COX2, TP63, ERBB3, GNAS, B2M, BMI1, MTCO2P12, MAP2K2, HPGDS, ALDH1A1, BCL2, PPP2R1A, RHOA, SMUG1, ATM, PIK3CD, H3P10, CD274, RPE65, PIK3CG, SOX2, MAPK14, MCL1, MIR375, XRCC3, TGFBR1, CXCL14, FHIT, POLDIP2, RAD51, AIMP2, CXCL8, RNF19A, EIF4E, MDM2, AHSA1, LINC01194, CRK, IL2, ADH1B, ERCC2, IGF1R, EZH2, GRAP2, FOXP3, ELAVL2, MYC, TIMP3, DCTN6, CCR7, MMP1, EPHB2, GAL, TMED7, ZNRD2, PSMD9, TICAM2, FN1, CXCR4, STAT1, H3P23, GALR1, AREG, JAK2, CXCL12, IFI27, EPCAM, MTDH, TSPAN31, TMED7-TICAM2, OGG1, S100A4, HAVCR2, NANS, SLPI, CYP1B1, PDCD1LG2, IL1B, CASP3, TERT, NBN, FGF2, MMP14, SERPINA5, BSG, MAPK3, POU5F1P3, POU5F1P4, NFKB1, ERBB4, MTHFR, SLCO6A1, GSTK1, ALDH2, POU5F1, ZFP36, SET, FOXM1, MIR146A, PTPRJ, RASSF1, TP73, HLA-A, ARHGAP24, EFNB2, POSTN, FGFR1, E2F1, RAD21, PTK2B, OBP2A, EGR1, ZBTB32, EPHA2, ERCC4, IFNG, SLC2A1, EPHB4, IGFBP3, DAPK1, KIF22, MMP3, CSF2, SEMA4D, MIR205, MIR206, CA9, NT5E, CDH1, SERPINE1, NR1I2, MAP2K7, MIR34A, GALR2, MIR31, NLRP2, HSPB3, MSH2, BRCA1, SOCS3, MIR99A, MTR, AXL, MYO1B, AVP, PMAIP1, XPA, AURKA, SERPINB3, AZIN2, HOTAIR, ADH1C, HDAC9, PARP1, S100A8, VEGFC, CD47, HSPB1, PPFIA1, FAT1, HSPB2, ERCC5, GADL1, BDNF, NME1, STC2, CD34, NGFR, IFNA1, CIP2A, IFNA13, HP, FGFR4, FSD1L, PIWIL1, FSD1, LGALS1, PDK1, DNMT3B, SNAI2, CD163, MIR137, SRC, CYP2E1, MTRNR2L12, MIR203A, ITGB1, LINC00460, PECAM1, FAS, GLI1, TYMS, CCL2, HMGA2, PIWIL4, XPC, IL13, IL10, MIR204, SOAT1, MDM4, PTK2, AKR1A1, PITX2, SAI1, FBLIM1, SST, GRPR, BRD4, STK11, DKK3, DNER, UBE2Q2, PCNA, NLRP3, HELLS, SERPINB4, LDHA, TAC1, COL18A1, IL18, SLC22A3, SNCA, WWOX, TWIST1, FRTS1, JUN, LRP1, SIRT1, KDR, KIR2DS1, TGFBR2, LOXL2, KNG1, KRT17, KRT19, RAD17, LOXL4, CSMD1, MIF, NTRK1, PTPA, SH3GL2, HSP90AA1, TNC, IFI16, TLR4, MAPK8, NEDD9, SLC1A5, GOPC, MRC1, IGFBP7, OGFR, RB1, ACKR3, SLC3A2, MIR93, MALAT1, MIR125A, CAV1, CASP9, KLF4, EDNRB, BRCA2, PDE5A, ESR1, PDPN, ETS1, FCGR3A, FASLG, MTRNR2L13, XIAP, HPSE, APEX1, MIR134, CD68, ANXA1, CYP2D6, SPHK1, CRABP2, CCN2, COL1A2, E2F7, CXADR, XRCC6P5, CYP26A1, MIR150, CDKN2B, TRIM24, CDK9, FADD, CDC25A, DHCR24, NQO1, ANXA5, MIRLET7D, ZEB2, ACTB, FOS, SLC7A5, ALB, GABPA, SPATA2, RARB, NM, SLC16A3, NOS2, SLC16A4, NGF, NXT1, BBC3, MAU2, CDKN1B, CCNL1, SETD2, DIABLO, ADORA2A, RAB25, CD40, STAT5A, STAT5B, MIR499A, RRM2, SCAF11, ENTPD1, SHMT1, SIRT3, S100A2, SYT1, MIR363, DNM1L, KIR2DL5B, NTSR1, NEDD8, TMPRSS11E, NCAM1, BCL10, CCR4, RABGEF1, H3P9, CD200, TBC1D9, KLF6, MIR30A, MSH3, PDCD4, SQSTM1, CRMP1, CRP, MIR29A, ACACB, CCL18, MSMB, CD247, MTRR, CEBPA, NAB2, TBX3, KIR2DL5A, TCF21, MUC1, MIR98, MST1, MIR96, SGSM3, INTS2, AGR2, COX1, MTUS1, CEP55, SERPINB2, LAT, KLRC4-KLRK1, PTGS1, LRPPRC, PTCH1, GDF15, EBI3, ATF4, ATP2A2, ALDH3A1, ATP2A3, ATR, BCL2A1, BCL2L1, TERF2IP, CEACAM1, PTHLH, RELA, ING4, TLR8, RAP1A, RAF1, ANGPTL4, ANXA2, PLAAT4, MICA, APC, SLC6A8, AMCN, PTX3, RPL17-C18orf32, BIRC2, TMX2-CTNND1, SMARCA2, PRKAB1, PRKAA2, PRKAA1, RUNX2, ATG16L1, SERPINE2, MAPKAPK2, PFKFB3, PER1, COMMD3-BMI1, PDLIM7, BHMT, PDGFRA, AURKB, CCK, DCLK1, CLOCK, PRKN, RPL17, PIN1, CALR, CALCR, MRPL28, MIR608, AHR, DDX58, SLC9A3R2, BST2, DAPK2, NOX4, KRT8P3, AKT2, POLD1, KL, CDKN2B-AS1, TFAP2A, GNG7, NRG1, SESN2, FLT4, IL13RA2, HLA-C, ECE1, SUB1, ABCC3, TMPRSS13, MIR100, BRIP1, KHDRBS1, DYRK1A, MIR107, ISG20, TXNRD1, ITGAM, KIR3DL1, MIR10B, ITK, IVL, DSPP, MIR141, JUNB, FGF3, JUND, FOSB, MLRL, RIPK1, MIR149, CBLL2, FUT1, IL6ST, EIF4EBP1, IL4R, ROBO3, FGFR2, GEMIN2, VDR, NMU, DENR, VTN, HCG22, KDM5B, STING1, FOXO3, IDUA, ESR2, UTRN, HOXA10, HOXA9, LMLN, HOPX, ERCC3, EPO, EPHX1, IGF2, IGFBP5, EPHA3, NR1H2, HMOX1, ELF3, TIGIT, IL2RA, FLT1, KIR2DS4, AJUBA, CHEK2, GPX1, TIMP2, TMC8, LOX, TIMM8A, PROM1, MIR200A, LTA, CYP1A2, GEM, WNK1, TACSTD2, MIR200B, GRP, SMAD2, SMAD3, IRX1, MIR200C, IL24, MAGEA3, CTNND1, ZNF35, MAL, MIR211, GORASP1, CD46, CSNK2A2, CSF3, DEK, GLS, CSF1R, MVP, CYP2C19, KLRK1, GSTM2, MIR184, TP53BP1, GTF2H1, DNAJB7, KRT8, IL18R1, MIR182, GATA3, TNFRSF10A, XRCC6, FXR1, DAP, DCC, MUL1, TNFSF10, SEC62, PPARGC1A, TMC6, DNAJC2, ARPC5, PTENP1, TSPAN1, HUWE1, AFF4, ESM1, WWTR1, CHD5, SNORD44, FBXO4, LYVE1, SLC17A5, PWP1, SCO2, RALBP1, RNU6-6P, BCL2L11, RAB40B, DCTN3, RBX1, ABCC5, CHP1, KLK8, LHX6, SLCO2B1, SMR3A, PTPRT, BTG3, SMG1, ACOT7, SDCCAG8, CLUH, VASH1, GPNMB, NTNG1, MLXIP, HEY1, NXF1, ZHX2, CRTAP, SIRT4, DICER1, MMRN1, MYBBP1A, NCBP2, SATB2, ATG7, RCHY1, DKK1, TXNIP, PRDX4, RHOBTB2, SULF1, JMJD6, P2RX2, GPD1L, TRIM32, OLFM4, STAMBP, TPX2, NINL, KDM6B, SUZ12, SRRM2, PUF60, RACK1, SEPTIN9, RAD50, NIPBL, TNFAIP8, GRAP, ALG3, FJX1, CTDSPL, DLEU1, MICU1, CERS1, SEMA3A, PHB2, IL17RA, SH3BP4, POLD3, GNA13, SLC7A11, LDOC1, NUP62, CTCF, PSD4, CXCR6, BPNT1, TUBB4B, SEC14L2, DLC1, TUSC2, ITGA11, SNX5, DERL1, AGO2, MIR106B, RASSF3, C3orf35, ACTBL2, ADGRD2, SOX2-OT, TEX45, LINC01116, RNF144A-AS1, GTF2H5, MIRLET7B, MIRLET7C, MIRLET7E, MIRLET7I, MIR122, BMP6P1, MIR143, MIR145, MIR155, MIR15A, MIR15B, MIR186, MIR191, MIR195, MIR196A2, MIR19A, MIR20A, MIR212, MIR22, OR10A4, CERS6, MIR26B, PWAR1, RHPN1, UHRF2, LRG1, THEM4, TWIST2, GSTO2, REG3G, UPRT, NEK7, CTCFL, OR2AG1, LINC00355, PRIMA1, LINC00052, RICTOR, ZNF569, COMMD1, LINC00964, MAGEB6, XIRP1, COMMD6, ARID2, APOBEC3A, MPEG1, MARCHF8, ALKBH3, HOXA11-AS, CTAG1A, MIR223, MIR27A, IL17B, MIR548H4, MIR618, MIR675, MIR300, MIR876, MIR877, MIR934, MIR885, MIR874, KTN1-AS1, PLA2G4B, MIR1275, MIR1301, MIR1251, HOTTIP, MIR605, MIR642B, LINC00958, P2RX5-TAX1BP3, MIR499B, PCAT1, CASC9, IL12A-AS1, LINC01615, TP53COR1, MYOSLID, LRP1-AS, LOC107987479, LOC110806263, MIR612, MIR590, MIR29C, MIR422A, MIR302A, MIR30E, MIR34B, MIR9-1, MIR9-3, DEFB103A, POTEKP, MIR135B, MIR328, MIR340, MIR376C, MIR372, MIR196B, MIR425, MIR574, CKMT1A, MIR31HG, MIR494, MIR193B, MIR506, MIR486-1, POTEM, MIR205HG, SKOR2, XAGE1B, XAGE1A, LGALS7B, SNORD116@, CYGB, HELQ, CYTOR, ATG2B, SLC38A2, EPB41L4A-DT, PCDH18, DDIT4, EGLN1, FEV, LY6K, NSUN2, NSD3, CMTM6, CT55, HCFC1R1, TMEM45A, FANCL, TLR9, DPPA4, SLC47A1, ZNF654, SPTLC3, LAPTM4B, MEG3, ZNF331, SAGE1, SUPT20H, CCDC88A, ZNF395, DEFB103B, CMAS, DCUN1D1, DUOX1, EGLN3, FAM135B, RBMS3, SLCO1B3, MYLIP, RACGAP1, SERTAD1, SH3KBP1, STOML2, RRM2B, DELEC1, ASAP1, F11R, ASCC1, GMNN, NDUFA13, SPA17, HSD17B12, DCTN4, PLCE1, CDKN2A-DT, TNFRSF12A, FZR1, RHCG, ISYNA1, DTL, SIRT7, SIRT6, MED15, TRIM33, PNO1, C1GALT1, SMYD2, TCHP, ZNF703, CPEB4, ULBP1, CD276, WNT5B, CLPTM1L, MAGED4B, ACTL8, BCL2L12, TLCD3B, ATG10, CCDC8, MYCBPAP, DOT1L, PRDM9, SNORD35B, MAK16, CCDC54, RITA1, ZNRF1, SNORD14B, SNORD14C, SNORD14D, SNORD14E, WNT3A, LINC00473, IL33, SLFN11, TRPM3, NAA25, DOCK5, WLS, SLC12A9, SMURF1, PBXIP1, SCYL1, TENM2, GATAD2B, SEMA6A, ZNF471, ARHGAP21, ANKRD36B, TP53INP2, POPDC3, ARHGEF28, NSD1, BCL11B, MRPL41, TMEM237, MARCKSL1, GGCT, FTO, CHAC1, GCC1, SLC52A2, NEIL1, NLRX1, LIN28A, ELMO3, FGF19, NAT1, DLEC1, GNB3, FOLR1, FOLR2, FTH1, FTL, GAST, FUT4, GAGE1, GAB1, GDF1, GDNF, GJA1, GJB2, GLB1, GCLC, GNRHR, E2F2, SFN, GPI, GPR4, LPAR4, GPR42, GSK3B, GSM1, GSN, GTF2H2, GTF2H3, GTF2H4, GZMB, GZMM, H2AX, FOLH1, FLOT2, FLNB, MLANA, E2F5, TYMP, ECT2, EDNRA, ELAVL1, ELK3, MARK2, ENG, EPHA1, EPHA8, EPHB1, EPHB3, EREG, ERCC6, EXT1, F2, F2R, F3, FANCA, FANCC, FANCD2, FANCE, FANCF, FCGR2A, FCGR3B, FES, FGF7, FHL1, FKBP4, HDAC1, HDGF, HIC1, ITGA5, ITGB4, JAK1, JAK3, CD82, KCNH1, KCNH2, KIR2DL2, KIR3DL2, KIT, KIF11, KRT5, KRT13, KRT16, KRT18, LAG3, LAMA3, LAMB3, LAMP1, LAMC2, STMN1, LASP1, LCN2, LGALS3, LGALS7, LGALS9, LIG4, LPP, LTB, LTF, ITGA9, ITGA3, HK2, ITGA2, HLA-B, HLA-G, HMGB1, HMGB2, HNF4A, HNRNPC, HNRNPK, HNRNPL, HOXB9, HOXC6, HOXD@, HRG, HSF2, HSPA1A, HSPA4, HSPA5, HYAL1, ID2, IFN1@, IFNAR1, IFNB1, IKBKB, IL4, IL15, TNFRSF9, IDO1, ING2, INHBA, IRF6, E2F3, DUSP5, NUAK1, CAPN6, ATP5MC2, ATP5PF, KIF1A, AZGP1, BAG1, BAX, BMP4, BMP7, DST, BRS3, BUB1, PTTG1IP, DDR1, CANX, CASP6, DUSP4, CASP7, CASR, CAT, RUNX1, CBL, SERPINH1, CBR1, CBS, CCT, CD1A, CD9, CD28, CD33, CD40LG, ATP5MC1, ATP5F1A, ZFHX3, ARNTL, ACACA, ACHE, ACTA1, ACTG1, ACTG2, ACTL6A, ACVRL1, ADA, ADH7, ADORA2B, ADRA1A, ADRA2B, GRK2, AP1G1, AGER, JAG1, ALCAM, ALK, ALOX5, ANXA6, APAF1, BIRC3, APP, ARF1, ARF6, ARG1, ARG2, RHOC, ARHGAP1, CD69, CD70, CD151, CST2, CST5, CST6, CSTA, CTAG1B, CTNNA2, CTSH, CUX1, CYP2A6, CYP2A13, CYP2C9, CYP2J2, DDB1, DDB2, DDC, AKR1C1, GADD45A, DDX3X, DDX5, DECR1, DIAPH1, DLAT, DYNC1H1, DNMT1, ATN1, DSC1, DSG3, HBEGF, DTX1, DUSP1, CST3, CSPG4, CDK1, CSH2, CDC42, CDH2, CDH11, CDH13, CDK5, CDK7, CDKN1A, CDKN1C, CDKN3, CDX1, CEBPB, CENPF, CHEK1, CHRNA4, CISH, CKMT1B, CLU, COL5A1, COL11A1, COL11A2, COMT, MAP3K8, COX5B, CRABP1, ATF2, CRYAB, CRYZ, CSE1L, CSH1, LYN, SMAD1, MAGEA1, TRAF3, PRDX2, TEAD4, TERC, TFAM, TFDP2, TFE3, TFRC, TGFB2, TGFB3, NKX2-1, TMSB4X, TNNC2, TNFAIP2, TRAF2, TRAF6, MAGEA11, TRPC6, TTK, TNFRSF4, TXN, USP4, UQCRFS1, NSD2, WNT1, WNT11, WRN, WT1, XPO1, XRCC2, XRCC5, TRBV20OR9-2, ZEB1, TBP, SERPINA7, SLC16A1, SLC19A1, SLCO2A1, SLCO1A2, SLN, SMARCD1, SMO, SMPD1, SIGLEC1, FSCN1, SOX4, SOX11, SPARC, SPOCK1, SPP1, SPRR2A, SRI, SRPK2, SSTR1, SSTR4, SULT1E1, STIM1, SULT1A1, ADAM17, TACR1, TALDO1, TAP1, TAT, TAZ, YY1, YWHAZ, ZNF195, CLDN1, LATS1, P2RX6, ATG12, NEURL1, PCSK7, LPAR2, MAP3K13, IL32, STK17A, TRIP13, TRIP12, ZFYVE9, NCR1, QKI, GSTO1, AIM2, FHL5, ATG5, PMPCB, PTGES, TP53I3, BCAR1, APOBEC3B, CYTIP, NCOR2, TRAF4, MAML1, MELK, FARP2, DNAJA3, GPRC5A, SCLC1, RPL14, SLC25A16, ADAM12, FOSL1, TAM, TKTL1, ARID1A, TAGLN2, ULK1, CUL4B, CUL3, SUPT3H, BHLHE40, LY6D, TNFSF11, USO1, NCOA1, SOCS1, EIF3A, BECN1, JMJD7-PLA2G4B, NOL4, CTNNAL1, GPAA1, NRP1, FCGBP, PER3, ARHGEF7, SELENBP1, LIMD1, SLC9A1, SLC6A2, SERPINA3, NTRK2, NTS, NR4A2, OAT, ODC1, OXA1L, P2RX1, P2RX3, P2RX4, P2RX5, P2RX7, P2RY1, P2RY2, P4HA1, PRDX1, PDGFA, PDHA1, PFN2, PHF2, SERPINB13, PKD1, PKM, PLAGL1, PLAU, PLEC, PLG, PLK1, PLXNB1, PRRX1, SEPTIN4, DDR2, PNP, PRKCA, NOVA1, MAGEB2, MCM7, MDK, ME1, MEFV, MFAP2, KITLG, MICE, MME, MMP8, MMP10, MMP17, MSN, MST1R, COX3, CYTB, MTHFD1, MUTYH, MVD, MXI1, MYH2, CEACAM6, NDN, NEFL, NEK2, NEU1, NEUROD1, NFYA, NOS3, POLB, PKN2, SLC2A4, RFC1, RNASE3, SNORD15A, RPA3, RPS6KA3, RPS19, RPS27, RPS29, RXRA, RYR2, S100A7, S100A9, SAA1, SAT1, SBF1, SCD, CCL15, CCL21, CCL22, CCL23, CXCL5, SDC1, SDCBP, SELL, SFRP1, SFRP4, SRSF3, SHMT2, SKP2, SLC2A3, RFPL1, REV3L, PRKD1, RET, PRKDC, MAPK10, EIF2AK2, PRLR, PRNP, PSMD10, PTBP1, PTGER3, PTH, PTK7, PTPN13, PTPRC, PTPRK, PVR, PVT1, PXN, PYGM, RAD51C, RAD51B, MOK, RAP1GAP, RARA, RARG, RBL2, RBP2, RBP3, RECQL, REL, REN, H3P40
- Squamous Cell Carcinoma Of The Hypopharynx Orphanet
  
  A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the piriform sinus, less frequently the posterior pharyngeal wall or the postcricoid area. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with odynophagia, dysphagia, signs and symptoms related to a neck mass, voice changes, otalgia, and constitutional symptoms.
- Squamous Cell Carcinoma Of The Oral Cavity Orphanet
  
  A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (such as smoking, alcohol consumption, and tobacco chewing). Patients present with a variably white, erythematous, mixed, nodular, or ulcerated lesion, which may cause discomfort, pain, or reduced mobility of the tongue. The tumor is aggressive with a propensity for local invasion and early lymph node metastasis.
- Head And Neck Squamous Cell Carcinoma MedlinePlus
  
  Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. Squamous cells are found in the outer layer of skin and in the mucous membranes, which are the moist tissues that line body cavities such as the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) develops in the mucous membranes of the mouth, nose, and throat. HNSCC is classified by its location: it can occur in the mouth (oral cavity), the middle part of the throat near the mouth (oropharynx), the space behind the nose (nasal cavity and paranasal sinuses), the upper part of the throat near the nasal cavity (nasopharynx), the voicebox (larynx), or the lower part of the throat near the larynx (hypopharynx). Depending on the location, the cancer can cause abnormal patches or open sores (ulcers) in the mouth and throat, unusual bleeding or pain in the mouth, sinus congestion that does not clear, sore throat, earache, pain when swallowing or difficulty swallowing, a hoarse voice, difficulty breathing, or enlarged lymph nodes.
- Squamous Cell Carcinoma Of The Larynx Orphanet
  
  A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the supraglottis or glottis. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with hoarseness, dyspnea, stridor, dysphagia, hemoptysis, or odynophagia.
- Squamous Cell Carcinoma Of The Oropharynx Orphanet
  
  A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, which may arise in association with high-risk HPV in a subset of cases. HPV-positive tumors have a strong predilection for the base of tongue and the palatine tonsils and typically present at an advanced clinical stage with cervical lymphadenopathy. They are associated with significantly better prognosis than HPV-negative tumors, which more commonly involve the soft palate, manifest as sore throat and difficulty in swallowing or a neck mass, and occur in older patients. Smoking and alcohol consumption are important risk factors.
- Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses Orphanet
  
  A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia, and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk HPV is most frequently associated with the non-keratinizing type.
- Squamous Cell Carcinoma Of The Lip Orphanet
  
  A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, most commonly arising at the vermilion border of the lower lip. Patients present with a usually asymptomatic lesion of variable appearance, such as ulceration, a focus of whitish thickening, a dry atrophic area, or an area of persistent chapping and localized flaking and crusting. Carcinomas of the lower lip tend to progress slowly (as opposed to those of the upper lip). Invasion of adjacent structures, including perineural spread, is typical, with a variable rate of metastasis, depending on the location.
Pneumothorax, Primary Spontaneous OMIM

Stephenson (1976) discussed an association between spontaneous pneumothorax and apical bullae, apical scars, and sharpness of the inner border of the first or second ribs. Leman and Dines (1973) described a family in which 4 members, a man and 3 daughters, including identical twins, had recurrent spontaneous pneumothorax. ... Gunji et al. (2007) reported 5 unrelated patients with multiple lung cysts and recurrent spontaneous pneumothorax. The mean age at onset of first pneumothorax was 30.4 years; none of the patients had skin or renal features. ... In 33, a family history of pneumothorax was obtained. Autosomal dominant inheritance with reduced penetrance in females was suggested by many of the pedigrees in the literature and in this study. ... The affected family reported by Morrison et al. (1998) showed autosomal dominant inheritance. Mapping By a genomewide scan in a large Finnish family with a dominantly inherited tendency to primary spontaneous pneumothorax, Painter et al. (2005) found linkage of PSP to chromosome 17p11. Molecular Genetics In affected members of a large Finnish family with autosomal dominant spontaneous pneumothorax, Painter et al. (2005) identified a heterozygous 4-bp deletion in the FLCN gene (607273.0009).

FLCN, MPRIP, STXBP3, REG1A, PSPH, PSPN, BPIFA2, RIDA, MSMB, TPO, MMP9, MAPT, NFE2L2, GABPA, CERS1, TIMP3, GNLY, FBLN5, HIF3A, FLAD1, LRRK2, CCL4L2, CCL4L1, LINC00977, NF1P1, TIMP4, CASP8, RAPSN, TIMP2, CCL4, DCTN1, FMR1, GDF1, HIF1A, HMOX1, LAG3, LAMC2, SMAD2, SMAD3, SMAD4, MMP2, MMP7, MUSK, NEFL, CSF2, LINC00824
- Familial Spontaneous Pneumothorax Orphanet
  
  Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.
- Primary Spontaneous Pneumothorax GARD
  
  In these cases, the condition follows an autosomal dominant pattern of inheritance. In addition, several genetic disorders have been linked to primary spontaneous pneumothorax, including Marfan syndrome , homocystinuria , and Birt-Hogg-Dube syndrome .
- Primary Spontaneous Pneumothorax MedlinePlus
  
  Learn more about the gene associated with Primary spontaneous pneumothorax FLCN Inheritance Pattern When this condition is caused by mutations in the FLCN gene, it is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.