MCID: HRD035
MIFTS: 10

Hair Defect with Photosensitivity and Mental Retardation

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Hair Defect with Photosensitivity and Mental Retardation

MalaCards integrated aliases for Hair Defect with Photosensitivity and Mental Retardation:

Name: Hair Defect with Photosensitivity and Mental Retardation 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hair defect with photosensitivity and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 234030
MedGen 41 C1856241

Summaries for Hair Defect with Photosensitivity and Mental Retardation

MalaCards based summary : Hair Defect with Photosensitivity and Mental Retardation is related to hair defect-photosensitivity-intellectual disability syndrome. Related phenotypes are intellectual disability and coarse hair

More information from OMIM: 234030

Related Diseases for Hair Defect with Photosensitivity and Mental Retardation

Diseases related to Hair Defect with Photosensitivity and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hair defect-photosensitivity-intellectual disability syndrome 11.6

Symptoms & Phenotypes for Hair Defect with Photosensitivity and Mental Retardation

Human phenotypes related to Hair Defect with Photosensitivity and Mental Retardation:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 coarse hair 31 HP:0002208
3 cutaneous photosensitivity 31 HP:0000992
4 sparse eyelashes 31 HP:0000653
5 brittle hair 31 HP:0002299
6 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM:

56
Skin:
photosensitivity

Neuro:
nonprogressive mental retardation

Hair:
stubby hair, eyebrows and eyelashes
coarse hair, eyebrows and eyelashes
sparse hair, eyebrows and eyelashes
fragile hair, eyebrows and eyelashes

Clinical features from OMIM:

234030

Drugs & Therapeutics for Hair Defect with Photosensitivity and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Hair Defect with Photosensitivity and Mental Retardation

Genetic Tests for Hair Defect with Photosensitivity and Mental Retardation

Anatomical Context for Hair Defect with Photosensitivity and Mental Retardation

Publications for Hair Defect with Photosensitivity and Mental Retardation

Articles related to Hair Defect with Photosensitivity and Mental Retardation:

# Title Authors PMID Year
1
Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation. 56
501478 1979

Variations for Hair Defect with Photosensitivity and Mental Retardation

Expression for Hair Defect with Photosensitivity and Mental Retardation

Search GEO for disease gene expression data for Hair Defect with Photosensitivity and Mental Retardation.

Pathways for Hair Defect with Photosensitivity and Mental Retardation

GO Terms for Hair Defect with Photosensitivity and Mental Retardation

Sources for Hair Defect with Photosensitivity and Mental Retardation

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
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