MCID: SBN004
MIFTS: 18

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 56 12 74 52 43 71
Brittle Hair and Mental Deficit 56 52
Brittle Hair-Mental Deficiency Syndrome 12
Trichothiodystrophy Type B 12
Sabinas Syndrome 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
sabinas brittle hair syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111874
OMIM 56 211390
MeSH 43 C536320
MedGen 41 C0796271
UMLS 71 C0796271

Summaries for Sabinas Brittle Hair Syndrome

OMIM : 56 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. Related phenotypes are nail dystrophy and intellectual disability

Disease Ontology : 12 A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility.

Wikipedia : 74 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 11.3
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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 occasional (7.5%) HP:0008404
2 intellectual disability 31 HP:0001249
3 nail dysplasia 31 HP:0002164
4 sparse hair 31 HP:0008070
5 brittle hair 31 HP:0002299
6 dry hair 31 HP:0011359

Symptoms via clinical synopsis from OMIM:

56
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

Cochrane evidence based reviews: 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. 56 61
15645389 2005
2
The Sabinas syndrome. 56 61
7325159 1981
3
Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases. 56
6492094 1984
4
Sabinas syndrome in monozygotic twins. 61
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 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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