Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Epidemiology Less that 50 patients have been reported worldwide. Clinical description The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies (a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus). Craniofacial anomalies (micrognathia, cleft palate, flattened nose and prominent forehead) have been reported occasionally. Intrafamilial variability of the patellar, pelvic and foot anomalies has been described.

Small patella syndrome (SPS) is a rare syndrome that mainly affects the way certain bones are formed (developed). A person with SPS usually has very small kneecaps (hypoplastic patella) or may have no kneecaps at all ( aplastic ). The hip (pelvic) bones may be weak, and the bones of the feet may not have formed correctly. Occasionally, bones in the face may also be affected. Small patella syndrome is caused by a change (pathogenic variant or mutation) in the TBX4 gene. The syndrome is inherited in an autosomal dominant manner. Diagnosis of the syndrome is suspected based on features that can be seen in a physical exam and on imaging tests such as X-rays.

Molecular Genetics In 6 families with small patella syndrome, Bongers et al. (2004) identified heterozygous mutations in the TBX4 gene, including 2 missense, 1 nonsense, 1 frameshift and 1 splice site mutation (see, e.g., 601719.0001-601719.0003).

Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration. Epidemiology Prevalence in Europe is about 1/130 000. Clinical description The clinical picture is identical to that of Tay-Sachs disease, with startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula. Patients may have a doll-like face, hepatosplenomegaly and recurring respiratory tract infections. High levels of urinary oligosaccharides are found. Children develop normally during the first 3-6 months of life, after which the disease appears and evolves quickly. In cases with later onset, or in adult cases, signs may be those of spinocerebellous ataxia or dystonia.

Sandhoff disease is an inherited lipid storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common and severe form of Sandhoff disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months when their development slows and muscles used for movement weaken. Other forms of Sandhoff disease have been described where much milder signs and symptoms begin in childhood, adolescence, or adulthood. These forms are very rare. Sandhoff disease is caused by mutations in the HEXB gene.

Autopsy revealed histiocytoid cardiomyopathy and thyroid abnormalities, including sites of oncocytic metaplasia and C-cell hyperplasia.

Molecular Genetics In 4 female patients, including the patient originally reported by Zvulunov et al. (1998), with linear skin defects reminiscent of those associated with mutation or deletions at chromosome Xp22 (see LSDMCA1, 309801) but in whom FISH studies or array CGH excluded deletion or translocation of the Xp22 region, Indrieri et al. (2012) analyzed the candidate mitochondrial respiratory chain-associated gene COX7B (300885) on Xq21 and identified heterozygosity for a 1-bp deletion, a splice site mutation, and a nonsense mutation, respectively (300885.0001-300885.0003).

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

Microphthalmia with linear skin defects syndrome (MLS syndrome) is a genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes ( microphthalmia ) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene.

Microphthalmia–dermal aplasia–sclerocornea syndrome Other names MIDAS syndrome [1] Microphthalmia–dermal aplasia–sclerocornea syndrome is a condition characterized by linear skin lesions . [1] [2] MLS is a rare X-linked dominant male -lethal disease characterized by unilateral or bilateral microphthalmia and linear skin defects in affected females , and in utero lethality for affected males. [3] It can be associated with HCCS , [4] but mutations in the MCCS gene cause microphthalmia with Linear Skin Defects Syndrome. [5] See also [ edit ] List of cutaneous conditions References [ edit ] ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. ISBN 978-1-4160-2999-1 . ^ Happle, R.; Daniëls, O.; Koopman, R. J. J. (1993). "MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome". American Journal of Medical Genetics . 47 (5): 710–3. doi : 10.1002/ajmg.1320470525 . PMID 8267001 . ^ Linear Skin Defects with Multiple Congenital Anomalies ^ Wimplinger I, Morleo M, Rosenberger G, et al.

Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. These markings follow the paths along which cells migrate as the skin develops before birth (lines of Blaschko). The skin defects generally improve over time and leave variable degrees of scarring.

Ten potential CpG islands, representing candidate sites for genes, were mapped within the 2.6-Mb region.

Painful bruising syndrome Other names GDS [1] Painful bruising syndrome (also known as " autoerythrocyte sensitization ", " Gardner–Diamond syndrome ", and " psychogenic purpura ") is an idiopathic trauma-induced condition seen in young to middle-aged women who sometimes manifest personality disorders . [2] : 829 It is characterized by a distinctive localized purpuric reaction occurring primarily on the legs, face and trunk, with recurring painful ecchymoses variably accompanied by syncope , nausea , vomiting , gastrointestinal and intracranial bleeding. [3] Patients with this condition can suffer frequent painful bruising around joints and muscles. Because of the rarity of the disorder, there are few methods of support in place for patients. [4] Many patients are labelled with the stigma of having a psychological condition without this having a specifically proven link. There have been cases of painful bruising syndrome reported where there are no additional psychological disorders. This has been known to be put into remission with chemotherapy. It was characterized in 1955 by Frank Gardner and Louis Diamond . [5] [6] Patient may present with a history of intermittent purpura mostly precipitated by stress. [ citation needed ] Contents 1 See also 2 References 3 Further reading 4 External links See also [ edit ] List of cutaneous conditions References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autoerythrocyte sensitization syndrome" . www.orpha.net . Retrieved 21 April 2019 . ^ James, William D.; Berger, Timothy G.; et al. (2006).

Most affected people report that the bruising occurs either spontaneously, or some time after trauma or surgery at other sites of the body. The cause of GDS is poorly understood.

Thyroid lymphoma Specialty ENT surgery , endocrinology , oncology Thyroid lymphoma is a rare cancer constituting 1% to 2% of all thyroid cancers and less than 2% of lymphomas . Thyroid lymphomas are classified as non–Hodgkin's B-cell lymphomas in a majority of cases, although Hodgkin's lymphoma of the thyroid has also been identified. [1] Contents 1 Signs and symptoms 2 Diagnosis 2.1 Histopathology 2.2 Staging 3 Treatment 4 Prognosis 5 References 6 External links Signs and symptoms [ edit ] As with other thyroid lesions, thyroid lymphoma affects predominantly females over 70 years of age with a history of Hashimoto's thyroiditis . Thus, Hashimoto's thyroiditis is considered a risk factor for thyroid lymphoma development. Thyroid lymphoma manifests as a rapidly enlarging neck mass which may compress the nearby trachea thereby causing narrowing or obstruction of the airway resulting in breathing difficulties or even respiratory failure . On physical examination, affected people typically exhibit a firm thyroid gland and enlarged lymph nodes .

A rare neoplastic disease characterized by a localized, unifocal, low-grade tumor composed of mature mast cells, without evidence of systemic mastocytosis or skin lesions. The tumor most commonly arises in the lung and shows a non-destructive growth pattern.

.; Pittaluga, Stefania; Dunleavy, Kieron; Grant, Nicole; White, Therese; Jiang, Liuyan; Davies-Hill, Theresa; Raffeld, Mark; Wilson, Wyndham H.; Jaffe, Elaine S. (2015). "Lymphomatoid Granulomatosis—A Single Institute Experience" . ... Judith; Vermeulen, R. Jeroen; Van Der Knaap, Marjo S. ; Euser, Anne M.; Van Der Valk, Paul; Kaspers, Gertjan J. ... PMID 23733760 . ^ a b Blanchart, K; Paciencia, M; Seguin, A; Chantepie, S; Du Cheyron, D; Charbonneau, P; Galateau-Salle, F; Terzi, N (2014). ... PMID 25130128 . ^ Yamakawa, T; Kurosawa, M; Yonezumi, M; Suzuki, S; Suzuki, H (2014). "メトトレキサート中止と脳病変への放射線照射が奏効したメトトレキサート関連リンパ腫様肉芽腫症" [Methotrexate-related lymphomatoid granulomatosis successfully treated with discontinuation of methotrexate and radiotherapy to brain]. ... PMID 23529185 . ^ Inaba, M; Ushijim, S; Hirata, N; Saisyoji, T; Kitaoka, M; Yoshinaga, T (2011).

Lymphomatoid granulomatosis is a rare disorder characterized by an overproduction of white blood cells known as B lymphocytes. These B cells can build up in the tissues of the body, causing damage to the blood vessels. In many cases of lymphomatoid granulomatosis, the abnormal B cells contain the Epstein-Barr virus . The disease is more common in men, usually after the fifth decade of life. Lymphomatoid granulomatosis most commonly affects the lungs, though other areas of the body may also be affected.

Gangliocytomas may occur in all age groups but most often occur in people between the ages of 10 and 30. The most common site is the temporal lobe of the brain, but they can arise anywhere in the CNS including the cerebellum, brainstem, floor of the third ventricle, and spinal cord.

Ganglioneuroma CT scan of a large ganglioneuroma within the chest cavity Specialty Oncology Ganglioneuroma is a rare and benign tumor of the autonomic nerve fibers arising from neural crest sympathogonia , which are completely undifferentiated cells of the sympathetic nervous system . [1] However, ganglioneuromas themselves are fully differentiated neuronal tumors that do not contain immature elements. [2] Ganglioneuromas most frequently occur in the abdomen, however these tumors can grow anywhere sympathetic nervous tissue is found. Other common locations include the adrenal gland , paraspinal retroperitoneum , posterior mediastinum , head, and neck. [1] Contents 1 Symptoms 2 Cause 3 Pathology 4 Diagnosis 5 Treatment 6 Prognosis 7 Neuroblastic tumors 8 References 9 External links Symptoms [ edit ] A ganglioneuroma is typically asymptomatic , and is typically only discovered when being examined or treated for another condition. Any symptoms will depend upon the tumor's location and the nearby organs affected. For example, a tumor in the chest area may cause breathing difficulty , chest pain , and trachea compression . If the tumor is located lower in the abdomen, it may cause abdominal pain and bloating .

Gangliocytoma is a rare, mixed neuronal-glial tumor characterized by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported.

A number sign (#) is used with this entry because arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is caused by homozygous or compound heterozygous mutation in the VIPAR gene (613401) on chromosome 14q24.3. For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085). Mapping In 3 probands with arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) who did not have mutations in the known ARCS1 gene, VPS33B (608552), Cullinane et al. (2010) performed a genomewide linkage screen and identified homozygosity at the VIPAR locus on chromosome 14q24.3-q31. Molecular Genetics In 3 probands with arthrogryposis, renal dysfunction, and cholestasis (ARCS2) mapping to the VIPAR locus on chromosome 14q24.3 and in 4 additional probands who did not have mutations in the known ARCS1 gene, VPS33B (608552), Cullinane et al. (2010) identified homozygosity or compound heterozygosity for mutations in the VIPAR gene (see, e.g., 613401.0001-613401.0005). The authors detected no differences in clinical symptoms, signs, or disease course between ARCS patients with mutations in VIPAR compared to patients with mutations in VPS33B.

A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. Epidemiology The prevalence is unknown but less than 100 patients have been reported in the literature so far. Clinical description The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Renal tubular dysfunction ranges from isolated renal tubular acidosis to complete Fanconi syndrome (polyuria, aminoaciduria, glycosuria, phosphaturia and bicarbonate wasting). Hepatic anomalies include variable combinations of cholestasis, intrahepatic biliary duct hypoplasia and lipofuscin deposition.

Arthrogryposis–renal dysfunction–cholestasis syndrome Other names ARC syndrome [1] Specialty Dermatology Arthrogryposis–renal dysfunction–cholestasis syndrome is a cutaneous condition caused by a mutation in the VPS33B gene. [2] Most of the cases have been survived for infancy. Recently, College of Medical Sciences in Nepal reports a case of ARC syndrome in a girl at the age of more than 18 years. See also [ edit ] Multiple sulfatase deficiency List of cutaneous conditions References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Arthrogryposis renal dysfunction cholestasis syndrome" . www.orpha.net . Retrieved 18 May 2019 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).

These point mutations either directly or indirectly prevent guanosine triphosphate (GTP) binding and inhibition of GDH, which causes GDH to uncontrollably remain active. [2] References [ edit ] ^ Pinney, SE; MacMullen, C; Becker, S; Lin, YW; Hanna, C; Thornton, P; Ganguly, A; Shyng, SL; Stanley, CA (August 2008).

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.

A number sign (#) is used with this entry because maturity-onset diabetes of the young type 8 with exocrine dysfunction (MODY8), also referred to as diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the variable number of tandem repeats (VNTR) of the carboxyl-ester lipase gene (CEL; 114840) on chromosome 9q34. Description Maturity-onset diabetes of the young type 8 (MODY8) is characterized by onset of diabetes before age 25 years, with slowly progressive pancreatic exocrine dysfunction, fatty replacement of pancreatic parenchyma (lipomatosis), and development of pancreatic cysts. Patients do not present clinical signs of chronic pancreatitis (summary by Johansson et al., 2018). For a phenotypic description and discussion of genetic heterogeneity of MODY, see 606391. Clinical Features The pancreas serves both endocrine and exocrine functions.

MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. Epidemiology MODY is the most common form of monogenic diabetes. Prevalence is estimated to be about 1/10,000 in adults and 1/23,000 in children. No specific ethnic predilection has been reported. It has been estimated that around 80% of cases are misdiagnosed as type 1 or type 2 diabetes, thus complicating prevalence and incidence estimations. Clinical description The clinical features of MODY vary depending on the genetic etiology. The most frequent subtypes are HNF1A-MODY (30-50%), GCK-MODY (30-50%), HNF4A-MODY (10%), and HNF1B-MODY (1-5%).

A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young-13 (MODY13) is caused by heterozygous mutation in the KCNJ11 gene (600937) on chromosome 11p15. For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Clinical Features Bonnefond et al. (2012) described a 4-generation French family with 12 members affected with MODY. Age at diagnosis ranged from 13 to 59 years of age. In addition, 1 member had impaired fasting glucose and another had impaired glucose tolerance. No member of the family had neonatal diabetes mellitus (NDM). Yorifuji et al. (2005) described a 4-generation Japanese family with diabetes mellitus.

A number sign (#) is used with this entry because this form of maturity-onset diabetes of the young (MODY11) is caused by heterozygous mutation in the BLK gene (191305) on chromosome 8p23-p22. For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Mapping Kim et al. (2004) performed a genomewide scan of 21 extended United States families segregating autosomal dominant maturity-onset diabetes of the young (MODY) not caused by known MODY genes. They found significant linkage to chromosome 8p23 in 6 of the families, with a heterogeneity-adjusted lod score of 3.37 at D8S1130 and nonparametric lod of 3.66 at D8S265 (p = 2 x 10(-5)). Haplotype analysis defined an approximately 2.7-Mb critical interval between markers D8S1706 and D8S1721.

A number sign (#) is used with this entry because the maturity-onset diabetes of the young type 2 (MODY2) is caused by heterozygous mutation in the GCK gene (138079) on chromosome 7p13. Description MODY is a form of NIDDM (125853) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. In a review of the various forms of MODY, Fajans et al. (2001) stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene.

A number sign (#) is used with this entry because this form of maturity-onset diabetes of the young (MODY10) is caused by heterozygous mutation in the INS gene (176730) on chromosome 11p15.5. For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Clinical Features Edghill et al. (2008) described a family with MODY who carried a heterozygous mutation in the INS gene. The proband, her mother, and her maternal grandmother were diagnosed with diabetes at 15, 15, and 65 years of age, respectively. They were nonobese and their diabetes was noninsulin-dependent. The proband was treated with diet alone for 10 years, then oral agents, before starting low-dose insulin; her mother was treated with diet for 40 years before starting oral agents; and her grandmother had been on diet for treatment in the 8 years since diagnosis.

A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young-14 (MODY14) is caused by heterozygous mutation in the APPL1 gene (604299) on chromosome 3p14. For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Molecular Genetics Prudente et al. (2015) performed whole-exome sequencing in 60 families in which diabetes was present in at least 3 consecutive generations; a proband and at least 1 first-degree relative were diagnosed with diabetes before age 35 years; diabetes entered the family from only 1 side; and mutations were not identified in the 6 most common MODY genes (HNF4A, 600281; GCK, 138079; HNF1A, 142410; PDX1, 600733; HNF1B, 189907; NEUROD1, 601724). In 2 families, they identified heterozygous mutations in the APPL1 gene: a nonsense mutation (L552X; 604299.0001) in a 4-generation Italian family, and a missense mutation (D94N; 604299.0002) in a 4-generation U.S. family. Functional analysis indicated that both are loss-of-function mutations.

Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high blood sugar levels. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood sugar arises from reduced production of insulin , which is a hormone produced in the pancreas that helps regulate blood sugar levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source. The different types of MODY are distinguished by their genetic causes.

The reading frame crossed over to the wildtype IPF1 reading frame at the site of the point deletion just carboxy-proximal to the transactivation domain.

A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young type 6 (MODY6) is caused by heterozygous mutation in the NEUROD1 gene (601724) on chromosome 2q31. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Molecular Genetics In a family reported by Malecki et al. (1999), members with mutations in the NEUROD1 gene met the diagnostic criteria for MODY including an autosomal pattern of inheritance, onset of diabetes before 25 years of age in 3 carriers, and a requirement for insulin treatment in 5 carriers; see 601724.0002. Pathogenesis In a review of the various forms of MODY, Fajans et al. (2001) suggested that the molecular basis of MODY6 is abnormal transcription/regulation of beta cell development and function.

Taken together with the finding of linkage between this region on chromosome 12 and an insulin-deficient form of NIDDM, designated NIDDM2, as demonstrated by Mahtani et al. (1996), the data suggested to Lehto et al. (1997) that mutations at the MODY3/NIDDM2 gene(s) result in a reduced insulin secretory response that subsequently progresses to diabetes, and underlines the importance of subphenotypic classification in studies of diabetes.

Maturity-onset diabetes of the young (MODY) is a form of diabetes that is characterized by an early onset diabetes. MODY represents about 2% of all diabetes cases and is commonly misdiagnosed as type 1 or type 2 diabetes mellitus . It is due to a primary defect in pancreatic β-cell function . There are several MODY subtypes with distinct genetic causes: MODY1, caused by mutations in the HNF4A gene; MODY2 , caused by mutations in GCK gene; MODY3 caused by mutations in the HNFA1 (the most common type); MODY4 caused by mutations in the PDX1 gene; MODY5 caused by mutations in the HNF1B gene; MODY6 caused by mutations in the NEUROD1 gene; MODY7 caused by mutations in the KLF11 gene; MODY8 caused by mutations in the CEL gene; MODY9 caused by mutations in the PAX4 gene; MODY10 caused by mutations in the INS gene; MODY11 caused by mutations in the BLK gene; MODY12 caused by mutations in the ABCC8 gene; MODY13 caused by heterozygous mutation in the KCNJ11 gene; and MODY14 caused by mutations in the APPL1 gene. It is inherited in an autosomal dominant pattern. Treatment depends on the subtype and may include sulfonylureas , insulin or diet and exercise.

. ^ Yorifuji, T; Kurokawa, K; Mamada, M; Imai, T; Kawai, M; Nishi, Y; Shishido, S; Hasegawa, Y; Nakahata, T (June 2004). ... PMID 15181075 . ^ Edghill, EL; Bingham, C; Slingerland, AS; Minton, JA; Noordam, C; Ellard, S; Hattersley, AT (December 2006). "Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development". ... Retrieved 12 June 2010 . ^ Steele AM, Shields BM, Wensley KJ, Colclough K, Ellard S, Hattersley AT. (2014). "Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia" . ... PMID 15774581 . ^ Online Mendelian Inheritance in Man (OMIM): MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VII; MODY7 - 610508 ^ Raeder H, Johansson S, Holm PI, et al. (January 2006). "Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction".

A number sign (#) is used with this entry because MODY9 is caused by heterozygous mutation in the PAX4 gene (167413). For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Molecular Genetics Plengvidhya et al. (2007) screened the PAX4 gene in 46 Thai probands with MODY who did not have mutations in known MODY genes and identified heterozygous mutations in 2 probands (167413.0004 and 167413.0005). Neither mutation was found in 344 controls of Thai origin.

A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young type 7 (MODY7) is caused by heterozygous mutation in the KLF11 gene (603301) on chromosome 2p25. For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Molecular Genetics Neve et al. (2005) sequenced the KLF11 gene in 190 probands of families with early-onset type II diabetes mellitus and identified a SNP (A349S; 603301.0001) in affected members of a 4-generation family and another SNP (T220M; 603301.0002) in affected members of 2 unrelated multigenerational families. In 1 of the latter families, the T220M variant was not found in a diabetic sib with disease onset at a later age. Neither variant was found in 313 patients with late-onset type II diabetes or in 313 normoglycemic individuals.

A number sign (#) is used with this entry because maturity-onset diabetes of the young (MODY) can be caused by mutation in several different genes. Description Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity (Vaxillaire and Froguel, 2008). Genetic Heterogeneity of MODY MODY1 (125850) is caused by heterozygous mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A; 600281) on chromosome 20. MODY2 (125851) is caused by heterozygous mutation in the glucokinase gene (GCK; 138079) on chromosome 7.

A number sign (#) is used with this entry because of evidence that squalene synthase deficiency is cause by homozygous or compound heterozygous mutations in the FDFT1 gene (184420) on chromosome 8p23. Description Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families. Clinical Features Coman et al. (2018) reported 3 patients from 2 families with squalene synthase deficiency. The sibs from family 1 were the products of a nonconsanguineous union of European parents and had very similar features and course.