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Items: 1 to 20 of 46

1.

CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA

MedGen UID:
910523
Concept ID:
CN240689
Disease or Syndrome
2.

3-METHYLGLUTACONIC ACIDURIA, TYPE VIII

MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). [from OMIM]

MedGen UID:
893719
Concept ID:
CN239573
Disease or Syndrome
3.

Immunodeficiency, common variable, 12

Common variable immunodeficiency-12 is an autosomal dominant primary immunodeficiency characterized by recurrent infections, mainly respiratory, associated with hypogammaglobulinemia. The disorder shows a highly variable age at onset and highly variable disease severity, even within the same family. Some patients have features of autoimmunity (summary by Fliegauf et al., 2015). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). [from OMIM]

MedGen UID:
851716
Concept ID:
CN233034
Disease or Syndrome
4.

Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset

MedGen UID:
832997
Concept ID:
CN228418
Disease or Syndrome
5.

Immunodeficiency 15

Immunodeficiency-15 (IMD15) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by Pannicke et al., 2013). [from OMIM]

MedGen UID:
816373
Concept ID:
C3810043
Disease or Syndrome
6.

Herpes simplex encephalitis, susceptibility to, 3

MedGen UID:
766782
Concept ID:
C3553868
Finding
7.

Multiple sclerosis, susceptibility to, 5

MedGen UID:
766642
Concept ID:
C3553728
Finding
8.

Basal cell carcinoma, susceptibility to, 7

MedGen UID:
766520
Concept ID:
C3553606
Finding; Neoplastic Process
9.

Mental retardation, autosomal recessive 34

MRT34 is an autosomal recessive neurologic disorder characterized by mild to moderate intellectual disability and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by Di Donato et al., 2016). [from OMIM]

MedGen UID:
482674
Concept ID:
C3281044
Disease or Syndrome
10.

Deafness, autosomal dominant 64

MedGen UID:
481578
Concept ID:
C3279948
Disease or Syndrome
11.

Dilated cardiomyopathy 1HH

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke. [from GeneReviews]

MedGen UID:
462643
Concept ID:
C3151293
Disease or Syndrome
12.
13.

Maturity-onset diabetes of the young, type 11

MedGen UID:
461968
Concept ID:
C3150618
Disease or Syndrome
14.

Nasopharyngeal carcinoma

Nasopharyngeal carcinoma (NPC, NPCA) is a multifactorial malignancy associated with both genetic and environmental factors. The cancer arises from the epithelium of the nasopharynx. The Epstein-Barr virus has been implicated (Tse et al., 2009). Genetic Heterogeneity of Susceptibility to Nasopharyngeal Carcinoma NPCA1 maps to chromosome 4p. NPCA2 (161550) maps to chromosome 6p21. NPCA3 (617075) is associated with variation in the MST1R gene (600168) on chromosome 3p21. [from OMIM]

MedGen UID:
419909
Concept ID:
C2931822
Disease or Syndrome; Neoplastic Process
15.

Myofibrillar myopathy, BAG3-related

Myofibrillar myopathy-6 is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of rapidly progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, and filamentous inclusions, and sural nerve biopsy shows a neuropathy, often with giant axonal neurons. Most patients are severely affected by the second decade and need cardiac transplant, ventilation, and/or a wheelchair (summary by Jaffer et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419). [from OMIM]

MedGen UID:
414119
Concept ID:
C2751831
Disease or Syndrome
16.

Glioma susceptibility 1

Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010). Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003). Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994). Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (276300), melanoma-astrocytoma syndrome (155755), neurofibromatosis-1 (NF1; 162200) and NF2 (101000), and tuberous sclerosis (TSC1; 191100). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. Genetic Heterogeneity of Susceptibility to Glioma Other glioma susceptibilities include GLM2 (613028), caused by variation in the PTEN gene (601728) on chromosome 10q23; GLM3 (613029), caused by variation in the BRCA2 gene (600185) on chromosome 13q12; GLM4 (607248), mapped to chromosome 15q23-q26.3; GLM5 (613030), mapped to chromosome 9p21; GLM6 (613031), mapped to chromosome 20q13; GLM7 (613032), mapped to chromosome 8q24; GLM8 (613033), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (606478) on chromosome 7q31. Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR; 131550), ERBB2 (164870), LGI1 (604619), GAS41 (602116), GLI (165220), DMBT1 (601969), IDH1 (147700), IDH2 (147650), BRAF (164757), PARK2 (602544), TP53 (191170), RB1 (614041), PIK3CA (171834), 10p15, 19q, and 17p13.3. [from OMIM]

MedGen UID:
413414
Concept ID:
C2750850
Disease or Syndrome; Finding
17.

Thrombocytopenia 4

MedGen UID:
394329
Concept ID:
C2677608
Disease or Syndrome
18.

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007). [from OMIM]

MedGen UID:
394295
Concept ID:
C2677481
Disease or Syndrome
19.

Hepatocellular carcinoma

Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002). [from OMIM]

MedGen UID:
389187
Concept ID:
C2239176
Neoplastic Process
20.

Myd88 deficiency

MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This primary immunodeficiency affects the innate immune response, which is the body's early, nonspecific response to foreign invaders (pathogens). MyD88 deficiency leads to abnormally frequent and severe infections by a subset of bacteria known as pyogenic bacteria. (Infection with pyogenic bacteria causes the production of pus.) However, affected individuals have normal resistance to other common bacteria, viruses, fungi, and parasites. The most common infections in MyD88 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent by about age 10.Children with MyD88 deficiency develop invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the ears, nose, or throat. Although fever is a common reaction to bacterial infections, many people with MyD88 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.
[from GHR]

MedGen UID:
383023
Concept ID:
C2677092
Disease or Syndrome
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