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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Mandibuloacral dysplasia with type B lipodystrophy

1 OMIM reference -
1 associated gene
25 signs/symptoms

DDOST-CDG

Mandibuloacral dysplasia with type B lipodystrophy

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DDOST	(0.56)	ZMPSTE24

Citations in the biomedical literature:

DDOST-CDG		Mandibuloacral dysplasia with type B lipodystrophy
	Synonym(s): - CDG syndrome type Ir - CDG-Ir - CDG1R - Carbohydrate deficient glycoprotein syndrome type Ir - Congenital disorder of glycosylation type 1r - Congenital disorder of glycosylation type Ir		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: unknown		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535706

Mandibuloacral dysplasia with type B lipodystrophy
	Very frequent - Anomalies of bones / skeletal anomalies - Clavicle absent / abnormal - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Microstomia / little mouth - Osteolysis / osteoclasia / bone destruction / erosions - Terminal / third phalangeal bone of fingers hypoplasia - Thin skin Frequent - Abnormal fat distribution / lipodystrophy - Abnormal scarring / cheloids / hypertrophic scars - Anomalies of teeth and dentition - Beaked nose - Hair and scalp anomalies - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Insulin resistance - Irregular / in bands / reticular skin hyperpigmentation - Nails anomalies - Periarticular tissue anomaly / extraarticular calcifications - Premature ageing - Proptosis / exophthalmos - Short stature / dwarfism / nanism - Short / small nose - Skin hypoplasia / aplasia / atrophy Occasional - Late puberty / hypogonadism / hypogenitalism
DDOST-CDG
(no data available)