MCID: CRN075
MIFTS: 16

Crandall Syndrome

Categories: Ear diseases, Rare diseases, Skin diseases

Aliases & Classifications for Crandall Syndrome

MalaCards integrated aliases for Crandall Syndrome:

Name: Crandall Syndrome 52 58
Alopecia-Sensorineural Deafness-Hypogonadism Syndrome 58
Alopecia-Deafness-Hypogonadism Syndrome 58
Alopecia Deafness Hypogonadism 52
Crandall's Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
crandall syndrome
Inheritance: Autosomal recessive;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

UMLS via Orphanet 72 C0432348
Orphanet 58 ORPHA202
UMLS 71 C0432348

Summaries for Crandall Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 202 Definition 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 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, eye and skin, and related phenotypes are alopecia and sensorineural hearing impairment

Wikipedia : 74 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 31 (showing 12, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
4 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
5 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
6 pili torti 58 31 hallmark (90%) Very frequent (99-80%) HP:0003777
7 abnormality of the eye 58 31 frequent (33%) Frequent (79-30%) HP:0000478
8 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
9 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
10 brittle hair 58 31 frequent (33%) Frequent (79-30%) HP:0002299
11 abnormal testis morphology 31 frequent (33%) HP:0000035
12 abnormality of the testis 58 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:

40
Testis, Eye, Skin

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....