| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H02604
|
Chromosome 1q21.1 duplication syndrome
|
... Individuals with 1q21.1 deletions or duplications exhibit consistent deficits on motor and cognitive functioning and abnormalities in head circumference. Increased prevalence of macrocephaly is observed in the ...
|
Chromosomal abnormality
|
|
|
|
H02609
|
Craniodiaphyseal dysplasia
|
... sclerotic bone disorder characterized by distinctive facial dysmorphism-prominent zygomatic bones, broadening of the center of the face, hypertelorism, a small upturned tip of the nose, prominent jaw, and open ...
|
Musculoskeletal disease
|
|
SOST [HSA:50964] [KO:K16834]
|
|
H02628
|
Schimmelpenning-Feuerstein-Mims syndrome
|
Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes, and bones.
|
Congenital malformation
|
|
KRAS [HSA:3845] [KO:K07827]
NRAS [HSA:4893] [KO:K07828]
HRAS [HSA:3265] [KO:K02833]
|
|
H02630
|
Chitayat syndrome
|
Chitayat syndrome is a rare condition characterized by bilateral hand hyperphalangism resulting in shortening and ulnar deviation of the index and sometimes third fingers, hallux valgus, mild facial dysmorphism ...
|
Congenital malformation
|
|
(CHYTS) ERF [HSA:2077] [KO:K09434]
|
|
H02718
|
Autosomal dominant pontine microangiopathy and leukoencephalopathy
|
... IV alpha 1 chain, have been identified in patients with this disease. Collagen type IV is one of the components of the brain vascular basement membrane responsible for maintaining mechanical stability.
|
Congenital malformation
|
|
COL4A1 [HSA:1282] [KO:K06237]
|
|
H02719
|
Multifocal fibromuscular dysplasia
|
... histologically by medial fibroplasia, and angiographically by multiple arterial stenoses with intervening mural dilations. A mutation in the COL5A1 gene, encoding collagen type V alpha 1 chain, has been ...
|
Cardiovascular disease
|
|
COL5A1 [HSA:1289] [KO:K19721]
|
|
H02722
|
Nevus comedonicus
|
... is an organoid epidermal nevus characterized by monomorphic, large, open comedones occurring on a noninflammatory background and following the lines of Blaschko. The cause of NC has been proven to be somatic ...
|
Congenital malformation
|
|
NEK9 [HSA:91754] [KO:K20878]
|
|
H02735
|
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
|
... has been reported that mutations in MTAP cause this syndrome. MTAP encodes methylthioadenosine phosphorylase that plays a crucial role in the salvage pathway for adenine and methionine in all tissues.
|
Congenital malformation
|
|
MTAP [HSA:4507] [KO:K00772]
|
|
H02738
|
Childhood-onset neurodegeneration with cerebellar atrophy
|
... developmental delays, and cerebellar atrophy on brain imaging from early infancy, followed by progressive worsening of neurological function. AGTPBP1 encodes cytosolic carboxypeptidase 1 (CCP1) involved in tubulin ...
|
Nervous system disease
|
|
(CONDCA) AGTPBP1 [HSA:23287] [KO:K23435]
|
|
H02746
|
Alfadhel syndrome
|
... feature, intellectual disability, and speech delay. It has been reported that mutations in RAP1GDS1 cause this syndrome. RAP1GDS1 is a guanine nucleotide exchange factor (GEF) that regulates small GTPases.
|
Congenital malformation
|
|
RAP1GDS1 [HSA:5910] [KO:K27817]
|
|
H02749
|
Bleeding disorder vascular-type
|
... been reported that mutations in APOLD1 cause this disease. APOLD1 encodes apolipoprotein L domain-containing 1, which was recently identified as an endothelial cell early response protein induced after ischemia ...
|
Hematologic disease
|
|
APOLD1 [HSA:81575]
|
|
H02769
|
Tolchin-Le Caignec syndrome
|
... reported that mutations in SOX6 cause this syndrome. SOX6 belongs to a family of SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many ...
|
Congenital malformation
|
|
SOX6 [HSA:55553] [KO:K09269]
|
|
H02770
|
Early-onset seizures with neurodegeneration and brain calcifications
|
... has been reported that mutations in NRROS cause this syndrome. NRROS is a leucine-rich repeat-containing transmembrane protein, preferentially expressed in myeloid cells. NRROS is also implicated in osteoclast ...
|
Nervous system disease
|
|
NRROS [HSA:375387] [KO:K26317]
|
|
H02773
|
Menstrual cycle-dependent periodic fever
|
... recurrent high fever with each menstrual cycle. It has been reported mutations in HTR1A cause this disease. HTR1A encodes the serotonin receptor 1A that plays a critical role in serotonergic transmission.
|
Endocrine and metabolic disease
|
|
HTR1A [HSA:3350] [KO:K04153]
|
|
H02779
|
Riboflavin-responsive exercise intolerance
|
... muscle weakness, and exercise intolerance. Supplementation with riboflavin, the precursor of flavin adenine dinucleotide (FAD), improves patients' clinical symptoms. It has been reported that mutations in ...
|
Inherited metabolic disorder
|
|
SLC25A32 [HSA:81034] [KO:K15115]
|
|
H02786
|
ENDOVE syndrome
|
ENDOVE syndrome is a complex limb malformation featuring mesomelic shortening, syndactyly and ventral nails. Homozygous non-coding deletions located upstream of the engrailed-1 gene (EN1) have been identified ...
|
Congenital malformation
|
|
EN1 [HSA:2019] [KO:K09319]
|
|
H02797
|
Siddiqi syndrome
|
... syndrome. It has been reported that mutations in FITM2 cause this syndrome. FITM2 is required for normal fat storage and metabolism due to its involvement in partitioning triglycerides into lipid droplets.
|
Congenital malformation
|
|
FITM2 [HSA:128486]
|