Trichothiodystrophy 4, nonphotosensitive
| Disorder | |
|---|---|
| OMIM #: | #234050 (Click to access OMIM database) |
| Disorder: | Trichothiodystrophy 4, nonphotosensitive |
| Also known as: | TTD4 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 TTDN1 AMISH BRITTLE HAIR BRAIN SYNDROME (ABHS) HAIR-BRAIN SYNDROME BIDS SYNDROME TRICHORRHEXIS NODOSA SYNDROME POLLITT SYNDROME TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME |
| Clinical | |
| Phenotype: | sulphur-deficient brittle hair, sparse hair, nail hypoplasia, nail dysplasia, developmental delay, growth deficiency, thick skin, ichthyosis, decreased fertility, photophobia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | MPLKIP |
| Base Change: | A>G, at nucleotide 430 |
| Amino Acid Change: | met 144 --> val |
| Last updated: | 2023-02-02 |
| References |
|---|
| Allen, RJ. (1971) Neurocutaneous syndromes in children. Postgrad Med J 50: 83-89. |
| Jackson CE, Weiss L, and Watson JH. (1974) "Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred. Pediatrics 54(2): 201-207. PubMed ID: 4847854 |
| Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, and Scherer SW. (2005) Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet 76(3): 510-516. PubMed ID: 15645389 |
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