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Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Microphthalmia, Lenz type
2 OMIM references -
2 associated genes
43 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Microphthalmia, Lenz type

STAT1
(UniProt - OMIM)
 BCOR
(UniProt - OMIM)
NAA10
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
STAT1
(0.63)
NAA10


Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1
Microphthalmia, Lenz type
BCOR NAA10



Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Microphthalmia, Lenz type

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):
- Lenz microphthalmia
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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):
- Congenital malformations, deformations and chromosomal abnormalities -
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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references
Microphthalmia, Lenz type

Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- X-linked recessive inheritance

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Agenesis / hypoplasia / aplasia of kidneys
- Camptodactyly of fingers
- Cleft lip and palate
- Clinodactyly of fifth finger
- Coloboma of iris
- Coloboma of the optic nerve
- External ear anomalies
- Glaucoma
- Hypospadias / epispadias / bent penis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Microcornea
- Retinoschisis / retinal / chorioretinal coloboma
- Short stature / dwarfism / nanism
- Syndactyly of fingers / interdigital palm
- Thumb duplication / distal bifid thumb phalangeal bone
- Tooth shape anomaly
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis

Occasional
- Auto-aggressivity / auto-mutilation
- Cataract / lens opacification
- Clavicle absent / abnormal
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Cryptophthalmia / ankyloblepharon / synblepharon
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Hearing loss / hypoacusia / deafness
- Kyphosis
- Long rib cage / thorax
- Lordosis
- Narrow / sloping shoulders
- Nystagmus
- Preauricular / branchial tags / appendages
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Visual loss / blindness / amblyopia
- Webbed neck / pterygium colli


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

(no data available)