MCID: CRN075
MIFTS: 17

Crandall Syndrome

Categories: Ear diseases, Rare diseases, Skin diseases

Aliases & Classifications for Crandall Syndrome

MalaCards integrated aliases for Crandall Syndrome:

Name: Crandall Syndrome 54 60
Alopecia-Sensorineural Deafness-Hypogonadism Syndrome 60
Alopecia-Deafness-Hypogonadism Syndrome 60
Alopecia Deafness Hypogonadism 54
Crandall's Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
crandall syndrome
Inheritance: Autosomal recessive;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

UMLS via Orphanet 75 C0432348
Orphanet 60 ORPHA202
UMLS 74 C0432348

Summaries for Crandall Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 202Disease definitionCrandall 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.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 eye, testis and skin, and related phenotypes are sensorineural hearing impairment and alopecia

Wikipedia : 77 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:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
2 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
3 hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000135
4 sparse body hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002231
5 aplasia/hypoplasia of the eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0100840
6 pili torti 60 33 hallmark (90%) Very frequent (99-80%) HP:0003777
7 abnormality of the eye 60 33 frequent (33%) Frequent (79-30%) HP:0000478
8 fine hair 60 33 frequent (33%) Frequent (79-30%) HP:0002213
9 hypoplasia of penis 60 33 frequent (33%) Frequent (79-30%) HP:0008736
10 brittle hair 60 33 frequent (33%) Frequent (79-30%) HP:0002299
11 abnormal testis morphology 33 frequent (33%) HP:0000035
12 abnormality of the testis 60 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:

42
Eye, Testis, 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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