TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1

General Information (adopted from Orphanet):

Synonyms, Signs: BIDS SYNDROME
AMISH BRITTLE HAIR BRAIN SYNDROME
HAIR-BRAIN SYNDROME
TTDN1
ABHS
Number of Symptoms 22
OrphanetNr:
OMIM Id: 234050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000144) Decreased fertility 11 / 7739
2
(HPO:0000463) Anteverted nares rare [HPO:skoehler] 305 / 7739
3
(HPO:0000252) Microcephaly 832 / 7739
4
(HPO:0000286) Epicanthus rare [HPO:skoehler] 371 / 7739
5
(HPO:0003196) Short nose rare [HPO:skoehler] 264 / 7739
6
(HPO:0000685) Hypoplasia of teeth rare [HPO:skoehler] 12 / 7739
7
(HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
8
(HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
9
(HPO:0000400) Macrotia 108 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0001510) Growth delay 295 / 7739
13
(HPO:0009886) Trichorrhexis nodosa 12 / 7739
14
(HPO:0001792) Small nail 55 / 7739
15
(HPO:0001598) Concave nail 14 / 7739
16
(HPO:0002299) Brittle hair 52 / 7739
17
(HPO:0008070) Sparse hair 94 / 7739
18
(HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
19
(HPO:0006829) Severe muscular hypotonia rare [HPO:skoehler] 29 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
(HPO:0001338) Partial agenesis of the corpus callosum rare [HPO:skoehler] 22 / 7739
22
(HPO:0002120) Cerebral cortical atrophy rare [HPO:skoehler] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among the Amish, Allen (1971) and subsequently Jackson et al. (1974) delineated a syndrome characterized by short stature, intellectual impairment, brittle hair, and decreased fertility. Twenty-five cases in an autosomal recessive pedigree pattern were identified. Impairment of linear ...
Molecular genetics OMIM Nakabayashi et al. (2005) analyzed 7 genes in the ABHS critical region by DNA sequencing and identified 3 homozygous sequence variations in the C7ORF11 gene in affected members of 1 of the Amish families. Two of the variations ...