AREDYLD syndrome

A syndrome that has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.



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Narrow down the case reports



Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 1488989
 Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: a second case of the AREDYLD syndrome.
Breslau-Siderius EJ, Toonstra J, Baart JA, Koppeschaar HP, Maassen JA, Beemer FA.
Am J Med Genet. 1992;44(3):374-7.
Diabetes mellitus Lipoatrophy
Adult Breast Ectodermal Dysplasia Females Homo sapiens Insulin Insulin-Like Growth Factor I Lipids Lipoatrophic Diabetes Mellitus Syndrome Tooth Abnormalities
        

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0000069 Abnormality of the ureter Very frequent (99-80%)
HP:0000160 Narrow mouth Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000319 Smooth philtrum Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000582 Upslanted palpebral fissure Very frequent (99-80%)
HP:0000682 Abnormality of dental enamel Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0002231 Sparse body hair Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0002644 Abnormality of pelvic girdle bone morphology Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004326 Cachexia Very frequent (99-80%)
HP:0004493 Craniofacial hyperostosis Very frequent (99-80%)
HP:0004828 Refractory anemia with ringed sideroblasts Very frequent (99-80%)
HP:0005105 Abnormal nasal morphology Very frequent (99-80%)
HP:0005978 Type II diabetes mellitus Very frequent (99-80%)
HP:0006288 Advanced eruption of teeth Very frequent (99-80%)
HP:0009912 Abnormality of the tragus Very frequent (99-80%)
HP:0010311 Aplasia/Hypoplasia of the breasts Very frequent (99-80%)
HP:0100578 Lipoatrophy Very frequent (99-80%)
HP:0100651 Type I diabetes mellitus Very frequent (99-80%)
HP:0100840 Aplasia/Hypoplasia of the eyebrow Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID