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Cataract - intellectual deficit - hypogonadism
1 OMIM reference -
2 associated genes
16 connected diseases
31 signs/symptoms
Disease Type of connection
Micro syndrome
Amyotrophic lateral sclerosis
Adult-onset distal myopathy due to VCP mutation
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Behavioral variant of frontotemporal dementia
Combined deficiency of factor V and factor VIII
Distal myopathy, Nonaka type
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Pontocerebellar hypoplasia type 2
Progressive non-fluent aphasia
Semantic dementia
Sialuria
Spastic paraplegia - Paget disease of bone
Distal Xq28 microduplication syndrome
Isolated adermatoglyphia
X-linked non-syndromic intellectual deficit
Synonym(s):
- Martsolf syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RAB3GAP1 Q15042602536
RAB3GAP2 Q9H2M9609275
Very frequent
- Abnormal dermatoglyphics
- Autosomal recessive inheritance
- Cataract / lens opacification
- Everted lower lip
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fissured / scrotal tongue
- Flat cheek bones / malar hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Low hair line (back)
- Microcephaly
- Mid-facial hypoplasia / short / small midface
- Premature ageing
- Short philtrum
- Short stature / dwarfism / nanism

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal toenails
- Anomalies of hands
- Brachycephaly / flat occiput
- Depressed nasal bridge
- High vaulted / narrow palate
- Hypotelorism
- Lordosis
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Terminal / third phalangeal bone of fingers broadened / deviated
- Ulnar deviation of fingers
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Antihelix anomaly
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Scoliosis