| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H02702
|
Tylosis with esophageal cancer
|
Tylosis with esophageal cancer (TOC) is an autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime risk of esophageal cancer. It has been reported ...
|
Congenital malformation
|
|
RHBDF2 [HSA:79651] [KO:K27588]
|
|
H02706
|
Early-onset dystonia and/or spastic paraplegia
|
Early-onset dystonia and/or spastic paraplegia (DYTSPG) is an autosomal dominant neurological disease caused by mutations in ATP5MC3. ATP5MC3 encodes the c subunit of mitochondrial complex V.
|
Nervous system disease
|
|
ATP5MC3 [HSA:518] [KO:K02128]
|
|
H02710
|
Yuksel-Vogel-Bauer syndrome
|
... heart disease and craniofacial malformations. DLG5 is a member of the membrane-associated guanylate kinase family of proteins and participates in regulation of Hippo, sonic Hedgehog, and TGF beta signaling
|
Congenital malformation
|
|
DLG5 [HSA:9231] [KO:K24050]
|
|
H02718
|
Autosomal dominant pontine microangiopathy and leukoencephalopathy
|
Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL) is a rare hereditary cerebral small vessel disease characterized by multiple small infarctions in the pons. Mutations causing ...
|
Congenital malformation
|
|
COL4A1 [HSA:1282] [KO:K06237]
|
|
H02721
|
Scapulohumeroperoneal myopathy
|
Scapulohumeroperoneal myopathy (SHPM) is an autosomal dominant slowly progressive scapuloperoneal neuromuscular disorder. Clinical characteristics include mild lower facial weakness, foot drop due to foot ...
|
Nervous system disease; Musculoskeletal disease
|
|
ACTA1 [HSA:58] [KO:K10354]
|
|
H02722
|
Nevus comedonicus
|
... lines of Blaschko. The cause of NC has been proven to be somatic mutations of the NEK9 gene. NEK9 is a serine/threonine kinase that functions as an important regulator of cell-cycle and checkpoint control.
|
Congenital malformation
|
|
NEK9 [HSA:91754] [KO:K20878]
|
|
H02727
|
Triokinase and FMN cyclase deficiency syndrome
|
Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease variably including cataracts, developmental delay, liver dysfunction, cerebellar hypoplasia, and fatal cardiomyopathy with ...
|
Inherited metabolic disorder
|
|
TKFC [HSA:26007] [KO:K00863]
|
|
H02728
|
Marbach-Schaaf neurodevelopmental syndrome
|
... spectrum disorder, and apraxia/dyspraxia. It has been reported mutations in PRKAR1B cause this syndrome. PRKAR1B encodes a regulatory subunit of the cyclic AMP-dependent protein kinase A protein complex.
|
Congenital malformation
|
|
PRKAR1B [HSA:5575] [KO:K04739]
|
|
H02731
|
Transient infantile hypertriglyceridemia
|
... glycerol-3-phosphate and NAD+. The hypertriglyceridemia is associated with hepatomegaly and moderately elevated transaminases that may decrease later in life, persistent fatty liver, and the development of hepatic fibrosis
|
Inherited metabolic disorder
|
|
GPD1 [HSA:2819] [KO:K00006]
|
|
H02735
|
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
|
Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH) is a rare autosomal dominant syndrome characterized by bone dysplasia, myopathy, and bone cancer. It has been reported that mutations ...
|
Congenital malformation
|
|
MTAP [HSA:4507] [KO:K00772]
|
|
H02740
|
Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities
|
... (CONRIBA) is a rare early-onset neurodegeneration caused by gain-of-function mutations in CLCN6. CLCN6 encodes a H(+)/Cl(-) exchanger that is predominantly found in late endosomes of the nervous system.
|
Nervous system disease
|
|
(CONRIBA) CLCN6 [HSA:1185] [KO:K05015]
|
|
H02743
|
KINSSHIP syndrome
|
KINSSHIP syndrome is an autosomal dominant disorder characterized by horseshoe kidney, mesomelic dysplasia, seizures, hypertrichosis, intellectual disability, and pulmonary involvement. It has been reported ...
|
Congenital malformation
|
|
AFF3 [HSA:3899] [KO:K15195]
|
|
H02747
|
Oculogastrointestinal neurodevelopmental syndrome
|
Oculogastrointestinal neurodevelopmental syndrome (OGIN) is a syndrome of congenital malformations and developmental delay caused by mutations in CAPN15. Clinical features include microcephaly, global ...
|
Congenital malformation
|
|
CAPN15 [HSA:8449] [KO:K12813]
|
|
H02749
|
Bleeding disorder vascular-type
|
Bleeding disorder vascular-type (BDVAS) is a novel autosomal dominant disorder associated with episodic impaired microcirculation. Patients present a severe atypical bleeding diathesis despite unaltered ...
|
Hematologic disease
|
|
APOLD1 [HSA:81575]
|
|
H02751
|
Orthostatic hypotension
|
Orthostatic hypotension (ORTHYP) is caused by an excessive fall of cardiac output or by defective or inadequate vasoconstrictor mechanisms. Characteristic symptoms include lightheadedness, dizziness, and ...
|
Cardiovascular disease
|
|
(ORTHYP1) DBH [HSA:1621] [KO:K00503]
(ORTHYP2) CYB561 [HSA:1534] [KO:K08360]
|
|
H02754
|
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
|
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is a very rare condition caused by mutations in SLC13A3. Patients exhibit a reversible leukoencephalopathy and urinary ...
|
Inherited metabolic disorder
|
|
SLC13A3 [HSA:64849] [KO:K14445]
|
|
H02765
|
Prieto syndrome
|
... been reported that mutations in WNK3 cause this syndrome. WNK3 is a chloride and cell volume-sensitive kinase, implicated in the development and function of the brain via its regulation of the cation-chloride ...
|
Congenital malformation
|
|
WNK3 [HSA:65267] [KO:K08867]
|
|
H02770
|
Early-onset seizures with neurodegeneration and brain calcifications
|
... characterized by refractory epilepsy, developmental regression, and reduced white matter volume with delayed myelination. It has been reported that mutations in NRROS cause this syndrome. NRROS is a leucine-rich repeat-containing ...
|
Nervous system disease
|
|
NRROS [HSA:375387] [KO:K26317]
|