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
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007894) Hypopigmentation of the fundus 14 / 7739
2
(HPO:0000365) Hearing impairment 539 / 7739
3
(HPO:0006958) Abnormal auditory evoked potentials 12 / 7739
4
(HPO:0002251) Aganglionic megacolon 78 / 7739
5
(HPO:0001520) Large for gestational age 34 / 7739
6
(HPO:0001022) Albinism 43 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Defective intestinal innervation 1 / 7739
9
(MedDRA:10052556) Deafness bilateral 1 / 7739
10
(OMIM) Aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine 1 / 7739
11
(OMIM) Black lock at temporal occipital region 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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). ...