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Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Intellectual deficit - sparse hair - brachydactyly
1 OMIM reference -
2 associated genes
37 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Intellectual deficit - sparse hair - brachydactyly

STAT1
(UniProt - OMIM)
 ARID1B
(UniProt - OMIM)
SMARCA2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
STAT1
(0.63)
SMARCA2


Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1
Intellectual deficit - sparse hair - brachydactyly
ARID1B SMARCA2



Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Intellectual deficit - sparse hair - brachydactyly

Synonym(s):
- MSMD due to partial STAT1 deficiency
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
Synonym(s):
- Nicolaides-Baraitser syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Intellectual deficit - sparse hair - brachydactyly

Very frequent
- Anteverted nares / nostrils
- Everted lower lip
- Flared / thick ala nasi
- High vaulted / narrow palate
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Joint / articular deformation
- Long philtrum
- Macrostomia / big mouth
- Microcephaly
- Philtrum flat / large / featureless / absent cupidon bows
- Short hand / brachydactyly
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thin / retracted lips
- Triangular face

Frequent
- Abnormal implantation of hair
- Abnormally placed nipples
- Blepharophimosis / short palpebral fissures
- Eczema
- High arched eyebrows
- Long / thick / curved lashes / trichomegaly / polytrichia
- Metacarpal anomalies / Archibald's sign
- Narrow nasal bridge
- Rippled skin
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Terminal broadening / clubbing of toes
- Terminal / third phalangeal bone of fingers broadened / deviated
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Wide space between 1st-2nd toes

Occasional
- Advanced bone age
- Congenital cardiac anomaly / malformation / cardiopathy
- Delayed bone age
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epiphyseal anomaly
- Herniae


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

(no data available)