MCID: CRN075
MIFTS: 15

Crandall Syndrome

Categories: Ear diseases, Rare diseases, Skin diseases

Aliases & Classifications for Crandall Syndrome

MalaCards integrated aliases for Crandall Syndrome:

Name: Crandall Syndrome 53 59
Alopecia-Sensorineural Deafness-Hypogonadism Syndrome 59
Alopecia-Deafness-Hypogonadism Syndrome 59
Alopecia Deafness Hypogonadism 53
Crandall's Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
crandall syndrome
Inheritance: Autosomal recessive;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

UMLS via Orphanet 73 C0432348
Orphanet 59 ORPHA202
UMLS 72 C0432348

Summaries for Crandall Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 202DefinitionCrandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjornstad's syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.Visit the Orphanet disease page for more resources.

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

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:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
3 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
4 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002231
5 aplasia/hypoplasia of the eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0100840
6 pili torti 59 32 hallmark (90%) Very frequent (99-80%) HP:0003777
7 abnormality of the eye 59 32 frequent (33%) Frequent (79-30%) HP:0000478
8 fine hair 59 32 frequent (33%) Frequent (79-30%) HP:0002213
9 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
10 brittle hair 59 32 frequent (33%) Frequent (79-30%) HP:0002299
11 abnormal testis morphology 32 frequent (33%) HP:0000035
12 abnormality of the testis 59 Frequent (79-30%)

Drugs & Therapeutics for Crandall Syndrome

Search Clinical Trials , NIH Clinical Center for Crandall Syndrome

Genetic Tests for Crandall Syndrome

Anatomical Context for Crandall Syndrome

MalaCards organs/tissues related to Crandall Syndrome:

41
Testis, Skin, 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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