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Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Achondroplasia

1 OMIM reference -
1 associated gene
41 signs/symptoms

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Achondroplasia

STAT1

(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		Achondroplasia
	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): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: elderly Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D000130

Achondroplasia
	Very frequent - Anomalies of the ribs - Anteverted nares / nostrils - Autosomal dominant inheritance - Chronic / relapsing otitis - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Frontal bossing / prominent forehead - Genu varum - Lordosis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Rhizomelic micromelia - Short hand / brachydactyly - Short stature / dwarfism / nanism Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal vertebral size / shape - Apnea / sleep apnea - Bowed diaphysis / diaphyses / long bones - Conductive deafness / hearing loss - Dilated cerebral ventricles without hydrocephaly - Elbow anomalies(excluding luxation) - Enlarged diaphysis / diaphyses - Generalized obesity - Hyperextensible joints / articular hyperlaxity - Hyperhidrosis / increased sweating - Hypotonia - Intrauterine growth retardation - Kyphosis - Long rib cage / thorax - Mid-facial hypoplasia / short / small midface - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Death in infancy - Elbow dislocation - Elocution disorders / dysarthria / dysphonia - Hydrocephaly - Rachidian / spine canal stenosis - Restricted joint mobility / joint stiffness / ankylosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
(no data available)