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Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Lacrimo-auriculo-dento-digital syndrome

1 OMIM reference -
3 associated genes
52 signs/symptoms

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Lacrimo-auriculo-dento-digital syndrome

STAT1	(UniProt - OMIM)	FGF10	(UniProt - OMIM)
		FGFR2	(UniProt - OMIM)
		FGFR3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STAT1	(0.66)	FGFR3

Citations in the biomedical literature:

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency		Lacrimo-auriculo-dento-digital syndrome
	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): - LADD syndrome - LARD syndrome - Lacrimo-auriculo-radio-dental syndrome - Levy-Hollister syndrome

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare odontologic disease - Rare otorhinolaryngologic disease - Rare skin 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: <1 / 1 000 000 Average age onset: childhood 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

Lacrimo-auriculo-dento-digital syndrome
	Very frequent - Autosomal dominant inheritance - Broad / bifid thumb - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Clinodactyly of toes - Complete / partial microdontia - Conductive deafness / hearing loss - Congenital alacrimia - Defect / anomaly of lacrimal system - Enamel anomaly - External ear anomalies - Fingerlike / triphalangeal thumb - Folded helix - Small / hypoplastic / adherent / absent ear lobe - Tooth shape anomaly Frequent - Anodontia / oligodontia / hypodontia - Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct - Antihelix anomaly - Broad / bifid big toe - Clinodactyly of fifth finger - Corneal ulceration / perforation - Long / large / bulbous nose - Low set ears / posteriorly rotated ears - Mouth dryness / xerostomia - Multiple caries - Oral synechiae / abnormal frenulae - Preaxial polydactyly (hand) - Sensorineural deafness / hearing loss - Syndactyly of fingers / interdigital palm - Telecanthus / canthal dystopy - Thumb anomalies (excluding hypoplasia) - Visual loss / blindness / amblyopia Occasional - Agenesis / hypoplasia / aplasia of kidneys - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - Broad forehead - Choanal atresia - Cleft lip and palate - Deepset eyes / enophthalmos - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - High forehead - Hypospadias / epispadias / bent penis - Large fontanelle / delayed fontanelle closure - Micrognathia / retrognathia / micrognathism / retrognathism - Nephrosclerosis - Ptosis - Radial club hand - Radioulnar synostosis - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Renal disease / nephropathy - Rib structure anomalies - Stillbirth / neonatal death - Taurodontia - Thumb hypoplasia / aplasia / absence
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
(no data available)