MCID: SBN004
MIFTS: 16

Sabinas Brittle Hair Syndrome

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sabinas Brittle Hair Syndrome

MalaCards integrated aliases for Sabinas Brittle Hair Syndrome:

Name: Sabinas Brittle Hair Syndrome 57 75 53 72
Brittle Hair and Mental Deficit 57 53
Sabinas Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
all cases from a remote village, sabinas, in northern mexico


HPO:

32
sabinas brittle hair syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 211390
MedGen 42 C0796271
UMLS 72 C0796271

Summaries for Sabinas Brittle Hair Syndrome

OMIM : 57 The principal features of Sabinas brittle hair syndrome, a form of nonphotosensitive trichothiodystrophy (TTDN; see 234050), include congenital hypotrichosis, mild to moderate onychodysplasia, varying mental retardation, and sterility. Ocular dysplasias are sometimes present and dentition is normal (Howell et al., 1980). (211390)

MalaCards based summary : Sabinas Brittle Hair Syndrome, also known as brittle hair and mental deficit, is related to trichothiodystrophy 4, nonphotosensitive and trichothiodystrophy 1, photosensitive. Related phenotypes are nail dystrophy and intellectual disability

Wikipedia : 75 Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is... more...

Related Diseases for Sabinas Brittle Hair Syndrome

Diseases related to Sabinas Brittle Hair Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 trichothiodystrophy 4, nonphotosensitive 11.5
2 trichothiodystrophy 1, photosensitive 11.2
3 nail disorder, nonsyndromic congenital, 9 10.2
4 autosomal recessive disease 10.2

Symptoms & Phenotypes for Sabinas Brittle Hair Syndrome

Human phenotypes related to Sabinas Brittle Hair Syndrome:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 32 occasional (7.5%) HP:0008404
2 intellectual disability 32 HP:0001249
3 hypotrichosis 32 HP:0001006
4 nail dysplasia 32 HP:0002164
5 brittle hair 32 HP:0002299
6 dry hair 32 HP:0011359

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Hair:
brittle hair
dry hair
fragile hair
hypotrichosis, axillary and pubic, postpubertal
hypotrichosis present at infancy

Skin Nails Hair Nails:
onychodystrophy (in some patients)

Neurologic Central Nervous System:
mental retardation

Clinical features from OMIM:

211390

Drugs & Therapeutics for Sabinas Brittle Hair Syndrome

Search Clinical Trials , NIH Clinical Center for Sabinas Brittle Hair Syndrome

Genetic Tests for Sabinas Brittle Hair Syndrome

Anatomical Context for Sabinas Brittle Hair Syndrome

Publications for Sabinas Brittle Hair Syndrome

Articles related to Sabinas Brittle Hair Syndrome:

# Title Authors PMID Year
1
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. 38 8
15645389 2005
2
The Sabinas syndrome. 38 8
7325159 1981
3
Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases. 8
6492094 1984
4
Sabinas syndrome in monozygotic twins. 38
19438561 2009

Variations for Sabinas Brittle Hair Syndrome

Expression for Sabinas Brittle Hair Syndrome

Search GEO for disease gene expression data for Sabinas Brittle Hair Syndrome.

Pathways for Sabinas Brittle Hair Syndrome

GO Terms for Sabinas Brittle Hair Syndrome

Sources for Sabinas Brittle Hair 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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