Mandibuloacral Dysplasia malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases
Aliases & Descriptions for Mandibuloacral Dysplasia:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
mandibuloacral dysplasia with type a lipodystrophy:
Inheritance: Autosomal recessive
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases, Skin diseases, Endocrine diseases
Rare bone diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
OMIM:49 Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth... (248370) more...
MalaCards based summary: Mandibuloacral Dysplasia, also known as mandibuloacral dysplasia with type a lipodystrophy, is related to hutchinson-gilford progeria and mandibuloacral dysplasia with type b lipodystrophy, and has symptoms including short distal phalanx of finger, aplasia/hypoplasia of the skin and prematurely aged appearance. An important gene associated with Mandibuloacral Dysplasia is LMNA (Lamin A/C), and among its related pathways are Initiation of Nuclear Envelope Reformation and Adipogenesis. Affiliated tissues include skin, bone and breast, and related mouse phenotypes are limbs/digits/tail and adipose tissue.
UniProtKB/Swiss-Prot:67 Mandibuloacral dysplasia with type A lipodystrophy: A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased.
Genetics Home Reference:23 Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. Other bone problems include loss of bone from the tips of the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure of certain skull bones; and joint deformities (contractures).
Wikipedia:68 Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia,... more...
Symptoms by clinical synopsis from OMIM:248370
Clinical features from OMIM:248370
Symptoms:51 (show all 48)
HPO human phenotypes related to Mandibuloacral Dysplasia:(show all 80)
UMLS symptoms related to Mandibuloacral Dysplasia:joint stiffness
MalaCards organs/tissues related to Mandibuloacral Dysplasia:33
Skin, Bone, Breast, Thyroid, Monocytes, Fetal brain, Endothelial
MGI Mouse Phenotypes related to Mandibuloacral Dysplasia:38 (show all 13)
Articles related to Mandibuloacral Dysplasia:(show all 50)
UniProtKB/Swiss-Prot genetic disease variations for Mandibuloacral Dysplasia:67
Clinvar genetic disease variations for Mandibuloacral Dysplasia:5
Search GEO for disease gene expression data for Mandibuloacral Dysplasia.
Pathways related to Mandibuloacral Dysplasia according to GeneCards Suite gene sharing:
Biological processes related to Mandibuloacral Dysplasia according to GeneCards Suite gene sharing:
Molecular functions related to Mandibuloacral Dysplasia according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet