ODCs

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Monosomy 13q14

1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Mandibuloacral dysplasia with type A lipodystrophy

1 OMIM reference -
1 associated gene
28 signs/symptoms

Monosomy 13q14

Mandibuloacral dysplasia with type A lipodystrophy

RB1

(UniProt - OMIM)

LMNA

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RB1	(0.86)	LMNA

Citations in the biomedical literature:

Monosomy 13q14		Mandibuloacral dysplasia with type A lipodystrophy
	Synonym(s): - Del(13)(q14) - Deletion 13q14 syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		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: C535705


COMMON SIGNS	- Cataract / lens opacification - Hypotonia - Short stature / dwarfism / nanism

Monosomy 13q14		Mandibuloacral dysplasia with type A lipodystrophy
	Very frequent - Broad nose / nasal bridge - Helix thickened / sculpted - High nasal bridge - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microcephaly - Total / partial trisomy / duplication Frequent - Abnormal dermatoglyphics - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Clinodactyly of fifth finger - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent / bat ears - Ptosis - Retinoblastoma - Short hand / brachydactyly - Short neck - Syndactyly of fingers / interdigital palm - Trigonocephaly Occasional - Anus / rectum anomalies - Corpus callosum / septum pellucidum total / partial agenesis - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Thumb hypoplasia / aplasia / absence - Webbed neck / pterygium colli		Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Alopecia - Clavicle absent / abnormal - Large fontanelle / delayed fontanelle closure - Osteolysis / osteoclasia / bone destruction / erosions - Premature ageing - Restricted joint mobility / joint stiffness / ankylosis - Skin hypoplasia / aplasia / atrophy - Terminal / third phalangeal bone of fingers hypoplasia - Wormian bones Frequent - Eyebrows anomalies - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Proptosis / exophthalmos Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Anomalies of cartilages, joints and periarticular tissue - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Articular / joint pain / arthralgia - Autosomal recessive inheritance - Breast tissue / mammary gland absence / aplasia - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Muscle anomalies - Tight skin / lack of elasticity