ORPHA:90154

Mandibuloacral dysplasia with type B lipodystrophy

This disease is described under Mandibuloacral dysplasia

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Mandibuloacral dysplasia with type B lipodystrophy
fr	Dysplasie mandibulo-acrale avec lipodystrophie de type B
de	Mandibuloakrale Dysplasie mit Lipodystrophie Typ B
es	Displasia mandibuloacral con lipodistrofia tipo B
it	Displasia mandiboloacrale con lipodistrofia tipo B
nl	Mandibuloacrale dysplasie met type B-lipodystrofie
pt	Displasia mandibuloacral com lipodistrofia tipo B
pl	Dysplazja żuchwowo-obojczykowa z lipodystrofią typu B
cs	Mandibuloakrální dysplázie s lipodystrofií typu B
uk	Мандибулоакральна дисплазія з ліподистрофією, тип В
zh	下颌末端发育不良伴脂肪代谢障碍B型
tr	Tip B lipodistrofi ile seyreden mandibuloakral displazi

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	608612	E		validated
ICD-10	Q87.5	NTBT	attributed	validated
ICD-11	LD27.6Z	NTBT	index	validated
MONDO	0012074	E		validated
MeSH	C535706	E		validated
UMLS	C1837756	E		validated
GARD	9989	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:2457Mandibuloacral dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders; rare endocrine diseases; rare bone diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ZMPSTE24	Disease-causing germline mutation(s) in	Assessed	HGNC:12877	ENSG00000084073	606480	1p34.2	zinc metallopeptidase STE24	12913070[PMID]_18435794[PMID]

0 records

No prevalence record in this release.

28 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000924	Abnormality of the skeletal system
HP:0001870	Acroosteolysis of distal phalanges (feet)
HP:0006710	Aplasia/Hypoplasia of the clavicles
HP:0004334	Dermal atrophy
HP:0000239	Large fontanelles
HP:0000347	Micrognathia
HP:0000160	Narrow mouth
HP:0002797	Osteolysis
HP:0009839	Osteolytic defects of the distal phalanges of the hand
HP:0009882	Short distal phalanx of finger
HP:0000963	Thin skin
Frequent (79-30%)
HP:0001211	Abnormal fingertip morphology
HP:0000164	Abnormality of the dentition
HP:0001595	Abnormality of the hair
HP:0001596	Alopecia
HP:0003761	Calcinosis
HP:0000444	Convex nasal ridge
HP:0009064	Generalized lipodystrophy
HP:0003077	Hyperlipidemia
HP:0000953	Hyperpigmentation of the skin
HP:0000855	Insulin resistance
HP:0008404	Nail dystrophy
HP:0007495	Prematurely aged appearance
HP:0005328	Progeroid facial appearance
HP:0000520	Proptosis
HP:0003196	Short nose
HP:0004322	Short stature
Occasional (29-5%)
HP:0000823	Delayed puberty