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Items: 1 to 20 of 238

1.

Cardioacrofacial dysplasia 1

Cardioacrofacial dysplasia-1 (CAFD1) is characterized by congenital cardiac defects, primarily common atrium or atrioventricular septal defect; limb anomalies, including short limbs, brachydactyly, and postaxial polydactyly; and dysmorphic facial features (Palencia-Campos et al., 2020). Genetic Heterogeneity of Cardioacrofacial Dysplasia CAFD2 (619143) is caused by mutation in the PRKACB gene (176892) on chromosome 1p31. [from OMIM]

MedGen UID:
1777656
Concept ID:
C5436885
Disease or Syndrome
2.

Noonan syndrome 13

Noonan syndrome-13 (NS13) is a neurodevelopmental disorder characterized by developmental delay and impaired intellectual development of variable severity, associated with behavioral problems. Affected individuals also exhibit reduced postnatal growth and craniofacial anomalies, including ptosis, hypertelorism, low-set posteriorly rotated ears, and short webbed neck. Other features include congenital heart defects and mild skeletal defects (Motta et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). [from OMIM]

MedGen UID:
1761918
Concept ID:
C5436773
Disease or Syndrome
3.

Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia

Immunodeficiency-73B with defective neutrophil chemotaxis (IMD73B) is an autosomal dominant immunologic disorder characterized by onset of recurrent infections in infancy or early childhood. Affected individuals develop respiratory infections, cellulitis, and severe invasive infections or sepsis; organisms include bacteria such as Staphylococcus, as well as viruses, fungi, and mycobacterial species. Laboratory studies show variable abnormalities, including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TRECs and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis. Hematopoietic stem cell transplantation is curative (summary by Hsu et al., 2019; review by Lougaris et al., 2020). In a review of autosomal forms of chronic granulomatous disease (see 306400 for genetic heterogeneity of CGD), Roos et al. (2021) noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity. [from OMIM]

MedGen UID:
1740566
Concept ID:
C5436549
Disease or Syndrome
4.

Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia

MedGen UID:
1734177
Concept ID:
C5436550
Disease or Syndrome
5.

Cardioacrofacial dysplasia 2

Cardioacrofacial dysplasia-2 (CAFD2) is characterized by congenital cardiac defects, primarily common atrium or atrioventricular septal defect; limb anomalies, including short limbs, brachydactyly, and postaxial polydactyly; and dysmorphic facial features. Developmental delay of variable severity has also been observed (Palencia-Campos et al., 2020). For a discussion of genetic heterogeneity of CAFD, see CAFD1 (619142). [from OMIM]

MedGen UID:
1731253
Concept ID:
C5436886
Disease or Syndrome
6.

Noonan syndrome 12

Noonan syndrome-12 (NS12) is characterized by macrocephaly and a recognizable facies, including hypertelorism, downslanting palpebral fissures, and low-set ears, as well as other features consistent with a Noonan syndrome diagnosis. Inter- and intrafamilial variability has been observed (Capri et al., 2019; Niihori et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). [from OMIM]

MedGen UID:
1684730
Concept ID:
C5231432
Disease or Syndrome
7.

Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies

MedGen UID:
1684725
Concept ID:
C5231416
Disease or Syndrome
8.

Immunodeficiency 64

Immunodeficiency-64 (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity (summary by Salzer et al., 2016, Mao et al., 2018, and Winter et al., 2018). [from OMIM]

MedGen UID:
1684716
Concept ID:
C5231402
Disease or Syndrome
9.

Cerebellar atrophy with seizures and variable developmental delay

Cerebellar atrophy with seizures and variable developmental delay (CASVDD) is an autosomal recessive neurologic disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging. Most patients also have onset of severe refractory seizures in the first year of life and show global developmental delay, compatible with epileptic encephalopathy (summary by Edvardson et al., 2013). However, at least 1 patient with normal cognitive development and only 1 febrile seizure has been reported (Valence et al., 2019), suggesting significant clinical variability of this disorder. [from OMIM]

MedGen UID:
1683734
Concept ID:
C5193132
Disease or Syndrome
10.

Noonan syndrome 11

Noonan syndrome-11 is characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and a consistent cardiac phenotype of cardiac hypertrophy (Higgins et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). [from OMIM]

MedGen UID:
1681177
Concept ID:
C5193130
Disease or Syndrome
11.

Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements

Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (NEDNEH) is an autosomal recessive severe neurologic disorder characterized by delayed psychomotor development with inability to walk or speak, early-onset refractory seizures, and nonepileptic hyperkinetic movement disorders, including myoclonus dystonia and dyskinesias. Patients require tube feeding and may die of respiratory failure in childhood or in the second decade (summary by Gorman et al., 2019). [from OMIM]

MedGen UID:
1678038
Concept ID:
C5193128
Disease or Syndrome
12.

Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal

GIST-plus syndrome (GISTPS) is an autosomal dominant disorder characterized by incomplete penetrance of multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor (GIST), inflammatory fibroid polyps (IFP), and fibroid tumors (FT). Some patients have been reported with coarse facies and skin, broad hands and feet, and premature tooth loss. Isolated GISTs and IFPs are seen in patients with somatic PDGFRA mutations (summary by Manley et al., 2018). [from OMIM]

MedGen UID:
1677803
Concept ID:
C5193005
Disease or Syndrome
13.

Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA

Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) is characterized by global developmental delay apparent from infancy or early childhood, resulting in mildly delayed walking, variably impaired intellectual development, and poor or absent speech. Additional features may include hypotonia, spasticity, or ataxia. About half of patients have abnormal findings on brain imaging, including cerebral or cerebellar atrophy, loss of white matter volume, thin corpus callosum, and perisylvian polymicrogyria. Seizures are not a prominent finding, and although some patients may have nonspecific dysmorphic facial features, there is no common or consistent gestalt (summary by Platzer et al., 2019). [from OMIM]

MedGen UID:
1675664
Concept ID:
C5193102
Disease or Syndrome
14.

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

Recurrent gastrointestinal ulceration with dysfunctional platelets (GURDP) is an autosomal recessive disorder characterized by onset of severe gastrointestinal mucosal ulceration in early childhood. Affected individuals may have secondary iron deficiency anemia or malnourishment. Studies of platelet aggregation show a functional defect associated with decreased thromboxane-A2 production and decreased eicosanoid biosynthesis. The gastrointestinal disease is believed to result from decreased or absent production of prostaglandins that protect the gut mucosa (summary by Adler et al., 2008 and Faioni et al., 2014). [from OMIM]

MedGen UID:
1672793
Concept ID:
C5193061
Disease or Syndrome
15.

Immunodeficiency 15

Immunodeficiency-15B (IMD15B) 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:
1648569
Concept ID:
C4747743
Disease or Syndrome
16.

Capillary malformation-arteriovenous malformation 1

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb). [from GeneReviews]

MedGen UID:
1648501
Concept ID:
C4747394
Disease or Syndrome
17.

Epilepsy, familial adult myoclonic, 7

MedGen UID:
1648435
Concept ID:
C4748080
Disease or Syndrome
18.

Inflammatory bowel disease, immunodeficiency, and encephalopathy

MedGen UID:
1648434
Concept ID:
C4748708
Disease or Syndrome
19.

Immunodeficiency 15a

Immunodeficiency 15A is an autosomal dominant primary immunodeficiency disorder characterized by relatively late onset of recurrent respiratory tract infections and lymphopenia, combined with immune activation of both CD4+ and CD8+ T cells. One patient presented with inflammatory disease and possible ectodermal defect. [from OMIM]

MedGen UID:
1648385
Concept ID:
C4748694
Disease or Syndrome
20.

Developmental and epileptic encephalopathy, 69

Developmental and epileptic encephalopathy-69 (DEE69) is an autosomal dominant severe neurodevelopmental encephalopathic disorder characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication (summary by Helbig et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

MedGen UID:
1648381
Concept ID:
C4748988
Disease or Syndrome
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