Preferred Label : Heimler syndrome 1;
Symbol : HMLR1;
CISMeF acronym : HMLR1; PBD1C;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Peroxisome biogenesis disorder 1c; PBD1C; Hearing loss, sensorineural, with enamel hypoplasia and nail defects;
Description : In a brother and sister born of healthy, unrelated parents, Heimler et al. (1991)
described an 11-year-old boy and his 9-year-old sister with severe bilateral sensorineural
hearing loss which developed in the first year or 2 of life. Both had normal primary
dentition, but the permanent teeth showed generalized enamel hypoplasia. Both children
had Beau lines (transverse ridges) of the toenails and the brother had white patches
in the fingernails (leukonychia). The sibs had been reported earlier by Fox et al.
(1989). Tischkowitz et al. (1999) reported a 12-year-old girl who presented at age
7 years with unilateral sensorineural hearing loss. In addition, she had hypomineralized
amelogenesis imperfecta of the permanent dentition only, and Beau lines, but no leukonychia.
Tischkowitz et al. (1999) pointed out that although the amelogenesis imperfecta in
the original report by Heimler et al. (1991) was said to be hypoplastic in nature,
this diagnosis had been made on the basis of clinical and radiographic appearances
rather than on histopathologic examination of teeth, which was available in the later
case. Pollak et al. (2003) reported a pair of sibs with Heimler syndrome who had sensorineural
hearing loss diagnosed after the first year of life and enamel hypoplasia with normal
primary dentition. Nail findings of Beau lines and leukonychia, which were described
in previously reported cases, were absent to questionable. Pollak et al. (2003) suggested
that their findings support autosomal recessive inheritance. *FIELD* RF 1. Fox, J.
E.; Heimler, A.; Hershey, J. E.; Crespi, P.: Sensorineural hearing loss, enamel hypoplasia,
and nail defects: a new syndrome? (Abstract) Am. J. Hum. Genet. 45 (suppl.): A45 only,
1989. 2. Heimler, A.; Fox, J. E.; Hershey, J. E.; Crespi, P.: Sensorineural hearing
loss, enamel hypoplasia, and nail abnormalities in sibs. Am. J. Med. Genet. 39: 192-195,
1991. 3. Pollak, C.; Floy, M.; Say, B.: Sensorineural hearing loss and enamel hypoplasia
with subtle nail findings: another family with Heimler's syndrome. Clin. Dysmorph.
12: 55-58, 2003. 4. Tischkowitz, M.; Clenaghan, C.; Davies, S.: Amelogenesis imperfecta,
sensorineural hearing loss, and Beau's lines: a second case report of Heimler's syndrome.
J. Med. Genet. 36: 941-943, 1999. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the peroxisome biogenesis factor 1 gene (PEX1, 602136.0006);
Prefixed ID : #234580;
Origin ID : 234580;
UMLS CUI : C4551980;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
