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Monomac Wikipedia

Not to be confused with the .Net bindings MonoMac. monoMAC syndrome Other names MonoMAC/DCML, monocytopenia and mycobacterium avium complex/dendritic cell, monocyte, B and NK lymphocyte deficiency Specialty Medical genetics MonoMAC syndrome is a rare autosomal dominant syndrome associated with: monocytopenia , B and NK cell lymphopenia ; mycobacterial, viral, fungal, and bacterial opportunistic infections ; and virus infection-induced cancers . ... "Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome" . Blood . 118 (10): 2653–5. doi : 10.1182/blood-2011-05-356352 . ... "Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency" . Blood . 118 (10): 2656–8. doi : 10.1182/blood-2011-06-360313 .

GATA2, IFNG, CCR7, MECOM, MYH11, TNFRSF11B, CXCR4, ASXL1, MIR126
- Monocytopenia With Susceptibility To Infections Orphanet
  
  Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.
- Immunodeficiency 21 OMIM
  
  A number sign (#) is used with this entry because immunodeficiency-21 (IMD21) is caused by heterozygous mutation in the GATA2 gene (137295) on chromosome 3q21. Primary lymphedema with myelodysplasia (614038), or Emberger syndrome, is an allelic disorder with overlapping clinical features. Description This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8.
- Gata2 Deficiency GARD
  
  GATA2 deficiency is a rare genetic disease that can present as several distinct syndromes: dendritic cell, monocyte, B, and natural killer lymphoid deficiency (monocytopenia and mycobacterial infection syndrome); familial myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML) ; deafness-lymphedema-leukemia syndrome (Emberger syndrome); or natural killer (NK) cell deficiency . Symptoms are varied and include severe infections (most commonly viral or nontuberculous mycobacterial infections), respiratory problems, hearing loss, leg swelling, and cancer that can appear early in childhood but also later on in life (such as myelodysplasia, acute myeloid leukemia (AML) or chronic myelomonocytic leukemia ). It is caused by mutations in the GATA2 gene , which provides instructions to produce GATA2, a protein that controls when certain genes are “turned on,” and directs the activity of many types of cells, including immune cells. Mutations in the GATA2 gene result in impaired GATA2 protein function leading to GATA2 deficiency. Inheritance is autosomal dominant. Treatment depends on the symptoms and may include vaccination, antibiotics, and bone marrow transplant.
- Gata2 Deficiency Wikipedia
  
  "Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency" . Blood . 118 (10): 2656–8. doi : 10.1182/blood-2011-06-360313 .
Nuclear Moulding Wikipedia

"Cytopathologic differential diagnosis of small cell carcinoma and poorly differentiated non-small cell carcinoma in bronchial lavage specimens using a regression analysis". APMIS . 118 (2): 150–5. doi : 10.1111/j.1600-0463.2009.02575.x .
Midline Cervical Cleft Wikipedia

"Midline cervical cleft: a rare congenital anomaly". Ann Otol Rhinol Laryngol . 118 (11): 786–90. doi : 10.1177/000348940911801107 .

ADGRV1
- Midline Cervical Cleft Orphanet
  
  Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.
Rasopathy Wikipedia

"A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition" . J. Clin. Invest . 118 (6): 2169–79. doi : 10.1172/JCI34385 .
Acute Motor Axonal Neuropathy Wikipedia

Relationship to Campylobacter jejuni infection and anti-glycolipid antibodies". Brain . 118 (3): 597–605. doi : 10.1093/brain/118.3.597 . ... "Guillain–Barré syndrome in northern China: The spectrum of neuropathological changes in clinically defined cases". Brain . 118 (3): 577–95. doi : 10.1093/brain/118.3.577 .

TNF, CST3, HP, HSPA4, TLR4, TNFRSF1A, TNFRSF1B, NOD1, CXCL13, IGLV1-50, IL17D, MYDGF, NOD2, IL27
- Acute Motor Axonal Neuropathy Orphanet
  
  A rare pure motor axonal form of Guillain-Barré syndrome (GBS). Epidemiology The overall annual incidence of GBS is estimated at between 1/91,000 and 1/55,000. The axonal forms (AMAN and acute motor-sensory axonal neuropathy, AMSAN; see this term) account for only 3-5% of cases in Western countries but are much more frequent (30%-50% of GBS cases) in Asia and Latin America. Clinical description AMAN presents with rapid onset of muscle weakness and absent reflexes. The clinical course in AMAN tends to be more severe than in the more frequent, demyelinating form of GBS, acute inflammatory demyelinating polyradiculoneuropathy (AIDP; see this term), with an increased number of patients requiring artificial ventilation due to respiratory involvement. However, there is no sensory deficit in AMAN and cranial nerve involvement is rare.
Anticonvulsant Hypersensitivity Syndrome Wikipedia

., sulfonylureas , thiazide diuretics , furosemide , and acetazolamide ); therefore, these medications can be safely used in the future. [1] The hypersensitivity syndrome is characterized by a rash that is initially rash that appears similar to measles (morbilliform) . [2] : 118 The rash may also be one of the potentially lethal severe cutaneous adverse reactions , the DRESS syndrome , Stevens–Johnson syndrome , or toxic epidermal necrolysis . [3] [4] Systemic manifestations occur at the time of skin manifestations and include a high number of eosinophils in the blood , liver inflammation , and interstitial nephritis . ... The risk of first-degree relatives developing the same hypersensitivity reaction is higher than in the general population. [1] As this syndrome can present secondary to multiple anticonvulsants, the general term "anticonvulsant hypersensitivity syndrome" (AHS) is favored over the original descriptive term "dilantin hypersensitivity syndrome." [2] : 118 As of 2015, two cases of AHS have been reported that manifested during long-term treatment with multiple anti-seizure medications .
Hyperinsulinism-Hyperammonemia Syndrome Wikipedia

The Journal of Clinical Investigation . 118 (8): 2877–86. doi : 10.1172/JCI35414 .

GLUD1, ABCC8, MTG1
- Hyperinsulinemic Hypoglycemia, Familial, 6 OMIM
  
  A number sign (#) is used with this entry because of evidence that familial hyperinsulinemic hypoglycemia-6 (HHF6) is caused by heterozygous mutation in the glutamate dehydrogenase (GDH) gene (GLUD1; 138130) on chromosome 10q23. For a phenotypic description and a discussion of genetic heterogeneity of familial hyperinsulinemic hypoglycemia, see HHF1 (256450). Clinical Features A distinct syndrome of hyperinsulinism and hyperammonemia in 3 unrelated children was described by Zammarchi et al. (1996) and Weinzimer et al. (1997). In addition, Zammarchi et al. (1996) suggested that the defect involved leucine hypersensitivity. Hsu et al. (2001) studied 8 children and 6 adults with hypoglycemia due to congenital hyperinsulinism combined with persistent unexplained hyperammonemia.
- Hyperinsulinism-Hyperammonemia Syndrome Orphanet
  
  Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur. Epidemiology Prevalence is estimated at 1 in 200,000. Clinical description Clinical features are similar to those described in congenital isolated hyperinsulinism (see this term), but the manifestations are milder with diagnosis delayed until late infancy. Hypoglycemia is triggered by fasting or a protein-rich meal (leucine sensitive hypoglycemia) and is easily controlled by diazoxide. Asymptomatic and persistent hyperammonemia (about 3 to 5 times the normal range) is observed.
Alopecia Areata 2 OMIM

Mapping In an effort to define a genetic basis of alopecia areata, Martinez-Mir et al. (2007) performed a genomewide search for linkage to 20 families with 102 affected and 118 unaffected individuals from the United States and Israel.

HR, VDR, AHSG, LMNA, DSP, WDR11, PTPN22, FOXN1, XIST, TNF, LGALS8, AIRE, IL1RN, IL1B, HMGB1, HLA-DRB1, HLA-A, ACE, RBM45
- Alopecia Areata 1 OMIM
  
  Mapping Linkage to Chromosome 18 In an effort to define a genetic basis of alopecia areata, Martinez-Mir et al. (2007) performed a genomewide search for linkage to 20 families with 102 affected and 118 unaffected individuals from the United States and Israel.
- Alopecia Areata MedlinePlus
  
  Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition. In most people with alopecia areata, hair falls out in small, round patches, leaving coin-sized areas of bare skin. This patchy hair loss occurs most often on the scalp but can affect other parts of the body as well. Uncommonly, the hair loss involves the entire scalp (in which case the condition is known as alopecia totalis) or the whole body (alopecia universalis). Other rare forms of alopecia areata, which have different patterns of hair loss, have also been reported.
- Alopecia Universalis Congenita OMIM
  
  A number sign (#) is used with this entry because of evidence that alopecia universalis congenita (ALUNC) is caused by homozygous mutation in the human homolog of the mouse 'hairless' gene (HR; 602302) on chromosome 8p21. Description Alopecia universalis congenita is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair (Nothen et al., 1998). This rare disorder is clearly distinct from alopecia areata (AA1; 104000), which has an autoimmune basis with probable genetic predisposition. Clinical Features Ahmad et al. (1993) studied an inbred Pakistani kindred in which 9 males and 4 females had alopecia universalis as an isolated abnormality. The affected individuals were distributed in 7 related sibships. Skin biopsy from the scalp showed hair follicles without hair.
- Alopecia Universalis Wikipedia
  
  Alopecia universalis French actor Tómas Lemarquis with alopecia universalis Specialty Dermatology Alopecia universalis (AU) , also known as alopecia areata universalis , is a medical condition involving the loss of all body hair, including eyebrows , eyelashes , chest hair , armpit hair , and pubic hair . It is the most severe form of alopecia areata . [1] Causes [ edit ] Alopecia universalis can occur at any age, and is currently believed to be an autoimmune disorder , in which a person's immune system attacks the hair follicles. Genetic factors may contribute to AU, as about 20% of those affected have a family member with alopecia. [2] Treatment [ edit ] No standard treatment is used for alopecia universalis. Many treatments have been explored, including immunomodulatory agents such as imiquimod . [3] Tofacitinib citrate may also have benefits. In June 2014, a 25-year-old man with almost no hair on his body was reported to have grown full head of hair, as well as eyebrows, eyelashes, and facial, armpit, and other hair, following eight months of treatment. [4] Current treatments [ edit ] Contact immunotherapy: Contact immunotherapy involves the use of contact allergens, such as diphencyprone and squaric acid dibutylester , to induce an immune response that is thought to oppose the action of cells causing hair loss. [5] [6] [7] A review that combined and analyzed the findings of 45 studies comprising 2,227 patients showed any hair regrowth in 54.5% and complete hair regrowth in 24.9% of patients with AT and AU using contact immunotherapy. [8] In addition to its helpful effects in treating AU, it can have side effects that can be very serious, such as severe dermatitis . [5] [9] Corticosteroids: Topical and intralesional corticosteroids , such as clobetasol propionate , have also shown to be an effective treatment for AT and AU patients. [5] [6] A controlled study comprising 28 patients found positive terminal hair growth in eight of the patients (28.5%) using a 0.05% clobetasol propionate ointment. [10] This is very similar to the results obtained from immunotherapy treatment trials.
- Alopecia Universalis GARD
  
  Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata , a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which the person's immune system mistakenly attacks the hair follicles. An interaction between genetic and environmental factors is thought to play a role in the condition's onset. There is currently no cure for AU, but sometimes hair regrowth occurs on its own, even after many years.
- Alopecia Universalis Orphanet
  
  A disorder of most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.
Aortoesophageal Fistula Wikipedia

Gastrointestinal Endoscopy Clinics of North America . 26 (1): 99–118. doi : 10.1016/j.giec.2015.08.003 .
Burton's Line Wikipedia

"Burton's line in lead poisoning" . Eur. Neurol . 57 (2): 118–9. doi : 10.1159/000098100 . PMID 17179719 .
Hyperinsulinemic Hypoglycemia, Familial, 2 OMIM

Bellanne-Chantelot et al. (2010) analyzed the ABCC8 and KCNJ11 genes in 109 diazoxide-unresponsive patients with congenital hyperinsulinism and identified mutations in 89 (82%) of the probands. A total of 118 mutations were found, including 106 (90%) in ABCC8 and 12 (10%) in KCNJ11; 94 of the 118 were different mutations, and 41 had been previously reported.

KCNJ11, ABCC8, GCK, FOXA2, HADH, HNF4A, GLUD1, HNF1A, INSR, UCP2, SLC16A1, MEN1, PDX1, NEUROD1, CDKN1A, PAX4, INS, KLF11, MPI, BLK, CEL, CDKN2C, CDKN1B, MAFA, CDKN2B, APPL1, SST, GCG, MTOR, NSD1, PGM1, HAO2, MAP4K3, PDHX, KDM6A, MCTS1, IQGAP1, NES, CIB2, FGF21, MED25, SAR1A, HAO1, MCAT, NHS, TRPC4, GLP1R, CDKN1C, CMA1, DDC, DPP4, EHHADH, EMP1, HSD17B10, SKIL, HRAS, IGF1, LEP, PCNA, PMM2, RIT2, IH
- Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency Orphanet
  
  A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.
- Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency Orphanet
  
  A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually present a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).
- Familial Hyperinsulinism GeneReviews
  
  Summary The purpose of this overview is to increase the awareness of clinicians regarding familial hyperinsulinism (referred to as FHI in this GeneReview ) and its genetic causes and management. The following are the goals of this overview. Goal 1. Describe the clinical characteristics of FHI. Goal 2. Review the genetic causes of FHI. Goal 3. Provide an evaluation strategy to identify the genetic cause of FHI in a proband (when possible). Goal 4. Inform (when possible) medical management of FHI based on genetic cause and evaluation of relatives at risk. Goal 5. Inform risk assessment and surveillance of at-risk relatives for early detection and treatment of FHI.
- Congenital Hyperinsulinism MedlinePlus
  
  Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma. The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family.
- Hyperinsulinemic Hypoglycemia, Familial, 1 OMIM
  
  Bellanne-Chantelot et al. (2010) analyzed the ABCC8 and KCNJ11 genes in 109 diazoxide-unresponsive patients with congenital hyperinsulinism and identified mutations in 89 (82%) of the probands. A total of 118 mutations were found, including 106 (90%) in ABCC8 and 12 (10%) in KCNJ11; 94 of the 118 were different mutations, and 41 had been previously reported.
- Autosomal Recessive Hyperinsulinism Due To Sur1 Deficiency Orphanet
  
  A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.
- Diazoxide-Resistant Focal Hyperinsulinism Due To Kir6.2 Deficiency Orphanet
  
  A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.
- Diazoxide-Resistant Focal Hyperinsulinism Due To Sur1 Deficiency Orphanet
  
  A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.
- Congenital Hyperinsulinism Wikipedia
  
  "PHHI" redirects here. It is not to be confused with Wheeler Army Airfield . Congenital hyperinsulinism Other names CHI Insulin (which this condition creates in excess ) Specialty Pediatrics , gastroenterology , endocrinology Symptoms Hypoglycemia [1] Causes ABCC8 gene mutations(most common) [2] Diagnostic method Blood sample [3] Treatment Octreotide, and nifedipine [4] Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which hypoglycemia is caused by excessive insulin secretion. [5] [4] Congenital forms of hyperinsulinemic hypoglycemia can be transient or persistent, mild or severe. These conditions are present at birth and most become apparent in early infancy. Mild cases can be treated by frequent feedings, more severe cases can be controlled by medications that reduce insulin secretion or effects. [5] [1] Contents 1 Signs and symptoms 2 Cause 3 Pathophysiology 4 Diagnostic 4.1 Differential diagnosis 4.2 Types 5 Treatment 6 History 7 See also 8 References 9 Further reading 10 External links Signs and symptoms [ edit ] Cardiomegaly Hypoglycemia in early infancy can cause jitteriness, lethargy , unresponsiveness, or seizures . [2] The most severe forms may cause macrosomia in utero, producing a large birth weight, often accompanied by abnormality of the pancreas. Milder hypoglycemia in infancy causes hunger every few hours, with increasing jitteriness or lethargy.
- Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency Orphanet
  
  A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).
- Congenital Hyperinsulinism GARD
  
  Congenital hyperinsulinism is a disease where there are abnormally high levels of insulin, a hormone produced by the beta cells of the pancrea s that helps control blood sugar levels. Because of the high levels of insulin, people with this disease have frequent episodes of low blood sugar ( hypoglycemia ) that can even occur after eating. In babies and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma. The severity and onset of these episodes varies, even among members of the same family.
Microhydranencephaly Wikipedia

Clinical Dysmorphology . 19 (3): 107–118. doi : 10.1097/mcd.0b013e32833946e9 .

NDE1
- Microhydranencephaly GARD
  
  Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). In most cases, the underlying cause is unknown. Rarely, the condition is caused by changes (mutations) in the NDE1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
- Nde1-Related Microhydranencephaly Orphanet
  
  NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.
- Microhydranencephaly OMIM
  
  A number sign (#) is used with this entry because of evidence that microhydranencephaly (MHAC) is caused by homozygous mutation in the NDE1 gene (609449) on chromosome 16p13. One such family has been reported. Mutation in the NDE1 gene can also cause lissencephaly-4 (LIS4; 614019). Description Microhydranencephaly (MHAC) is a severe neurodevelopmental defect characterized by extreme microcephaly, profound motor and mental retardation, spasticity, and incomplete cerebral formation. Radiologic studies show gross dilation of the ventricles resulting from the absence of cerebral hemispheres or severe delay in their development, as well as hypoplasia of the corpus callosum, cerebellum, and brainstem (summary by Guven et al., 2012). Clinical Features Kavaslar et al. (2000) reported a large consanguineous Anatolian (Turkish) family with children who had the unusual association of microcephaly and hydranencephaly.
Familial Renal Amyloidosis Wikipedia

"Underdiagnosed amyloidosis: amyloidosis of lysozyme variant". Am. J. Med . 118 (3): 321–2. doi : 10.1016/j.amjmed.2004.10.022 . ... External links [ edit ] Classification D ICD - 10 : E85.0 ICD - 9-CM : 277.3 OMIM : 105200 MeSH : C538249 DiseasesDB : 33335 External resources eMedicine : med/3379 v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2 v t e Disease of the kidney glomerules Primarily nephrotic Non-proliferative Minimal change Focal segmental Membranous Proliferative Mesangial proliferative Endocapillary proliferative Membranoproliferative/mesangiocapillary By condition Diabetic Amyloidosis Primarily nephritic , RPG Type I RPG / Type II hypersensitivity Goodpasture syndrome Type II RPG / Type III hypersensitivity Post-streptococcal Lupus diffuse proliferative IgA Type III RPG / Pauci-immune Granulomatosis with polyangiitis Microscopic polyangiitis Eosinophilic granulomatosis with polyangiitis General glomerulonephritis glomerulonephrosis v t e Inborn error of lipid metabolism : dyslipidemia Hyperlipidemia Hypercholesterolemia / Hypertriglyceridemia Lipoprotein lipase deficiency/Type Ia Familial apoprotein CII deficiency/Type Ib Familial hypercholesterolemia/Type IIa Combined hyperlipidemia/Type IIb Familial dysbetalipoproteinemia/Type III Familial hypertriglyceridemia/Type IV Xanthoma/Xanthomatosis Hypolipoproteinemia Hypoalphalipoproteinemia/HDL Lecithin cholesterol acyltransferase deficiency Tangier disease Hypobetalipoproteinemia/LDL Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease Lipodystrophy Barraquer–Simons syndrome Other Lipomatosis Adiposis dolorosa Lipoid proteinosis APOA1 familial renal amyloidosis This article about a disease , disorder, or medical condition is a stub .

APOA1, B2M, FGA, LYZ, GSN, APOA1-AS, CD38, PTPRC
- Amyloidosis, Familial Visceral OMIM
  
  A number sign (#) is used with this entry because of the evidence that systemic nonneuropathic amyloidosis can be the result of mutation in the apolipoprotein A1 gene (APOA1; 107680), the fibrinogen alpha-chain gene (FGA; 134820), or the lysozyme gene (LYZ; 153450) Heterozygous mutation in the beta-2-microglobulin gene (B2M; 109700) has been reported to result in systemic nonneuropathic amyloidosis. One such family has been reported. Clinical Features Ostertag (1932, 1950) reported on a family with visceral amyloidosis. A woman, 3 of her children, and 1 of her grandchildren were affected with chronic nephropathy, arterial hypertension, and hepatosplenomegaly. Albuminuria, hematuria and pitting edema were early signs. The age of onset was variable. Death occurred about 10 years after onset. The visceral involvement by amyloid was found to be extensive.
- Hereditary Amyloidosis With Primary Renal Involvement Orphanet
  
  A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.
Whim Syndrome Wikipedia

"Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling" . J. Clin. Invest . 118 (3): 1074–84. doi : 10.1172/JCI33187 . ... "The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome" . Blood . 118 (18): 4957–62. doi : 10.1182/blood-2011-07-368084 . ... "The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome" . Blood . 118 (18): 4963–6. doi : 10.1182/blood-2011-06-360586 .

CXCR4, CXCL12, GRK3, CSF3, FLNA, ITK, MYD88, RAC2, CORO1A, ACKR3
- Whim Syndrome OMIM
  
  A number sign (#) is used with this entry because of evidence that WHIM syndrome (WHIMS) is caused by heterozygous mutation in the CXCR4 gene (162643) on chromosome 2q22. Description WHIM syndrome is an immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions (summary by Hernandez et al., 2003). Clinical Features Wetzler et al. (1990) described a family in which 2 sisters and their father had a combination of chronic papillomavirus and bacterial sinopulmonary infections, low immunoglobulin levels, and peripheral neutropenia in the face of bone marrow hypercellularity, shift to the right in granulopoiesis, and distinctive neutrophil morphology.
- Whim Syndrome GARD
  
  WHIM syndrome is an acronym for a rare immunodeficiency disorder with each letter representing a predominant feature of the condition: (W) = warts ; (H) = hypogammaglobulinemia ; (I) = infections; and (M) = myelokathexis (retention of neutrophils in the bone marrow). Symptoms usually begin in early childhood with recurrent bacterial infections such as respiratory infections and cellulitis . In later childhood, individuals develop widespread warts that often become persistent despite treatments that are normally effective. Warts that involve the genital area may eventually cause cancer. It is caused by mutations in the CXCR4 gene and is inherited in an autosomal dominant manner. Treatment may include medications that replace antibodies (intravenous immunoglobulin) or increase the number of neutrophils; vaccinations; and prophylactic antibiotics to reduce the risk of infections.
- Whim Syndrome Orphanet
  
  WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma). Epidemiology WHIM syndrome is extremely rare, with 65 cases reported worldwide to date. The incidence in France between 1990 and 2006 has been estimated at less than 1/ 4,000,000 births. Clinical description WHIM syndrome has a heterogeneous clinical picture. Onset usually occurs during early childhood with recurrent bacterial infections, including pharyngitis, sinusitis, otitis, meningitis and pneumonia, which respond well to antibiotics.
Neuronal Intermediate Filament Inclusion Disease Wikipedia

"Spatial patterns of FUS-immunoreactive neuronal cytoplasmic inclusions (NCI) in neuronal intermediate filament inclusion disease (NIFID)" . Journal of Neural Transmission . 118 (11): 1651–7. doi : 10.1007/s00702-011-0690-x .
Behr Syndrome Wikipedia

Journal of the Neurological Sciences . 357 (1–2): 115–118. doi : 10.1016/j.jns.2015.07.009 . ... "[Behr syndrome and hypergonadotropic hypogonadism]". Medicina Clínica . 118 (19): 759. doi : 10.1016/s0025-7753(02)72522-0 .

OPA1, C19orf12
- Behr Syndrome OMIM
  
  A number sign (#) is used with this entry because of evidence that Behr syndrome (BEHRS) is caused by homozygous or compound heterozygous mutations in the OPA1 gene (605290) on chromosome 3q29. Description 'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984). Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (606580), result in type III 3-methylglutaconic aciduria (MGCA3; 258501). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III.
- Behr Syndrome GARD
  
  Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.
Mediastinal Shift Wikipedia

"Conduite à tenir devant une déviation médiastinale fœtale : une approche pratique". Journal de Radiologie . 92 (2): 118–124. doi : 10.1016/j.jradio.2010.12.002 .
Pseudomyopia Wikipedia

"Comparative analysis of the efficacy of some methods of conservative treatment of accommodation spasms and myopia in children". Vestn Oftalmol . 118 (6): 10–2. PMID 12506647 .
Leishmaniasis, Tegumentary, Susceptibility To OMIM

To assess genetic and environmental factors involved in the development of the cutaneous lesion, Alcais et al. (1997) performed a family study in a region of Bolivia where the disease is endemic. This study involved 118 nuclear families, each with at least 1 cutaneous affected subject; 41 families were of native origin, and 77 (designated 'migrant') had recently settled in the area.
Majewski's Polydactyly Syndrome Wikipedia

Zeitschrift für Kinderheilkunde . 111 (2): 118–138. doi : 10.1007/BF00446428 . PMID 4331366 .

NEK1, DYNC2H1, TRAF3IP1, IFT172, TTC21B, WDR35, WDR34, IFT140, KIAA0586, IFT52, DYNC2LI1, WDR60, TCTEX1D2, CEP120, EVC2, CRMP1, FUZ, IFT80, EVC, TTC21B-AS1
- Short Rib-Polydactyly Syndrome, Majewski Type Orphanet
  
  A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fetal in the neonatal period.
- Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly OMIM
  
  A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-6 with or without polydactyly (SRTD6) is caused by homozygous mutation in the NEK1 gene (604588) on chromosome 4q33. There is also evidence that SRTD can be caused by digenic biallelic mutation in the NEK1 and DYNC2H1 (603297) genes. Description Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance.
- Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly OMIM
  
  A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-3 with or without polydactyly (SRTD3) is caused by homozygous or compound heterozygous mutation in the DYNC2H1 gene (603297) on chromosome 11q22. There is also evidence that SRTD can be caused by digenic biallelic mutation in the DYNC2H1 and NEK1 (604588) genes. Description Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance.