MCID: CRN075
MIFTS: 17

Crandall Syndrome

Categories: Ear diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Crandall Syndrome

MalaCards integrated aliases for Crandall Syndrome:

Name: Crandall Syndrome 19 58 75
Alopecia-Sensorineural Hearing Loss-Hypogonadism Syndrome 58
Alopecia-Sensorineural Deafness-Hypogonadism Syndrome 58
Alopecia-Hearing Loss-Hypogonadism Syndrome 58
Alopecia-Deafness-Hypogonadism Syndrome 58
Alopecia Deafness Hypogonadism 19
Crandall's Syndrome 71

Characteristics:


Inheritance:

Autosomal recessive 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

UMLS via Orphanet 72 C0432348
Orphanet 58 ORPHA202
UMLS 71 C0432348

Summaries for Crandall Syndrome

GARD: 19 Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad's syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.

MalaCards based summary: Crandall Syndrome, is also known as alopecia-sensorineural hearing loss-hypogonadism syndrome. Affiliated tissues include skin, testis and eye, and related phenotypes are sensorineural hearing impairment and alopecia

Orphanet: 58 Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad's syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.

Wikipedia: 75 Crandall syndrome is a very rare congenital disorder characterised by progressive sensorineural hearing... more...

Related Diseases for Crandall Syndrome

Symptoms & Phenotypes for Crandall Syndrome

Human phenotypes related to Crandall Syndrome:

58 30 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000407
2 alopecia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001596
3 sparse body hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002231
4 aplasia/hypoplasia of the eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100840
5 hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000135
6 pili torti 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003777
7 abnormal testis morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000035
8 abnormality of the eye 58 30 Frequent (33%) Frequent (79-30%)
HP:0000478
9 fine hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002213
10 hypoplasia of penis 58 30 Frequent (33%) Frequent (79-30%)
HP:0008736
11 brittle hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002299

Drugs & Therapeutics for Crandall Syndrome

Search Clinical Trials, NIH Clinical Center for Crandall Syndrome

Genetic Tests for Crandall Syndrome

Anatomical Context for Crandall Syndrome

Organs/tissues related to Crandall Syndrome:

MalaCards : Skin, Testis, Eye

Publications for Crandall Syndrome

Variations for Crandall Syndrome

Expression for Crandall Syndrome

Search GEO for disease gene expression data for Crandall Syndrome.

Pathways for Crandall Syndrome

GO Terms for Crandall Syndrome

Sources for Crandall Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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