ABCD SYNDROME
General Information (adopted from Orphanet):
Synonyms, Signs: |
ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS ABCDS |
Number of Symptoms | 11 |
OrphanetNr: | |
OMIM Id: |
600501
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0007894) | Hypopigmentation of the fundus | 14 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0006958) | Abnormal auditory evoked potentials | 12 / 7739 | ||||
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(HPO:0002251) | Aganglionic megacolon | 78 / 7739 | ||||
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(HPO:0001520) | Large for gestational age | 34 / 7739 | ||||
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(HPO:0001022) | Albinism | 43 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Defective intestinal innervation | 1 / 7739 | ||||
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(MedDRA:10052556) | Deafness bilateral | 1 / 7739 | ||||
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(OMIM) | Aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine | 1 / 7739 | ||||
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(OMIM) | Black lock at temporal occipital region | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Gross et al. (1995) described a new neural crest syndrome with autosomal recessive inheritance. The proband was a macrosomic newborn girl with albinism, a black lock at the right temporal occipital region, and retinal depigmentation. Bilateral deafness was ... |
Molecular genetics OMIM |
Noting the phenotypic overlap between ABCD syndrome and Waardenburg-Shah syndrome, Verheij et al. (2002) screened DNA from the child described by Gross et al. (1995) for mutations in the EDNRB gene and identified a homozygous nonsense mutation (131244.0008). ... |