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Autosomal recessive primary microcephaly
11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Waardenburg-Shah syndrome
3 OMIM references -
3 associated genes
22 signs/symptoms
Autosomal recessive primary microcephaly
Waardenburg-Shah syndrome

ASPM
(UniProt - OMIM)
 EDN3
(UniProt - OMIM)
CASC5
(UniProt - OMIM)
 EDNRB
(UniProt - OMIM)
CDK5RAP2
(UniProt - OMIM)
 SOX10
(UniProt - OMIM)
CDK6
(UniProt - OMIM)
CENPJ
(UniProt - OMIM)
CEP135
(UniProt - OMIM)
CEP152
(UniProt - OMIM)
CEP63
(UniProt - OMIM)
MCPH1
(UniProt - OMIM)
PHC1
(UniProt - OMIM)
STIL
(UniProt - OMIM)
WDR62
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CDK6
(0.7)
SOX10


Citations in the biomedical literature:


Autosomal recessive primary microcephaly
ASPM CASC5 CDK5RAP2 CDK6 CENPJ CEP135
CEP152 CEP63 MCPH1 PHC1 STIL WDR62

Waardenburg-Shah syndrome
EDN3 EDNRB SOX10



Autosomal recessive primary microcephaly
Waardenburg-Shah syndrome

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly
Synonym(s):
- Shah-Waardenburg syndrome
- WS4
- Waardenburg syndrome type 4
- Waardenburg-Hirschsprung syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
11 OMIM references -
No MeSH references
External references:
3 OMIM references -
No MeSH references
Waardenburg-Shah syndrome

Very frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of eyes and vision
- Autosomal dominant inheritance
- Constipation
- Decreased hair pigmentation / hypopigmentation of hair
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Eyebrows anomalies
- Hearing loss / hypoacusia / deafness
- Intestinal obstruction / ileus
- Intestinal / colonic anomaly
- Macular pigmentary anomaly / cherry-red spot
- Premature greying of hair
- White forelock / piebaldism

Frequent
- Acute abdominal pain / colic
- Anomalies of nose and olfaction
- Broad nose / nasal bridge
- High nasal bridge
- Synophris / synophrys
- Thin / hypoplastic ala nasi

Occasional
- Autosomal recessive inheritance
- Retinitis pigmentosa / retinal pigmentary changes
- Telecanthus / canthal dystopy


Autosomal recessive primary microcephaly

(no data available)