Hallermann-Streiff Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases
Aliases & Descriptions for Hallermann-Streiff Syndrome:
Orphanet epidemiological data:52
Inheritance: Not applicable; Age of onset: Infancy,Neonatal
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases, Skin diseases
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:46 Hallermann-streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. intellectual disability is present in some individuals. almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. treatment is symptomatic and supportive. last updated: 7/23/2012
MalaCards based summary: Hallermann-Streiff Syndrome, also known as francois dyscephalic syndrome, is related to neurodegeneration with brain iron accumulation 1 and cataract, and has symptoms including micrognathia, convex nasal ridge and cataract. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways are Transport of connexins along the secretory pathway and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Affiliated tissues include skin, bone and eye, and related mouse phenotypes are vision/eye and muscle.
Disease Ontology:11 A syndrome that affects growth, cranial development, hair growth and dental development.
UniProtKB/Swiss-Prot:68 Hallermann-Streiff syndrome: A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases.
OMIM:50 Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing),... (234100) more...
Symptoms by clinical synopsis from OMIM:234100
Clinical features from OMIM:234100
Symptoms:52 (show all 50)
HPO human phenotypes related to Hallermann-Streiff Syndrome:(show all 104)
MalaCards organs/tissues related to Hallermann-Streiff Syndrome:34
Skin, Bone, Eye, Heart, Cerebellum, Tongue, Brain
MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:39 (show all 12)
Articles related to Hallermann-Streiff Syndrome:(show top 50) (show all 97)
Search GEO for disease gene expression data for Hallermann-Streiff Syndrome.
Pathways related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:
Cellular components related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet