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Heimler syndrome 1(HMLR1)

MedGen UID:
1647369
Concept ID:
C4551980
Disease or Syndrome
Synonyms: HMLR1; PEROXISOME BIOGENESIS DISORDER 1C
 
Gene (location): PEX1 (7q21.2)
 
OMIM®: 234580

Definition

Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, 214100), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015). Genetic Heterogeneity of Heimler Syndrome Another form of Heimler syndrome (HMLR2; 616617) is caused by mutation in the PEX6 gene (601498) on chromosome 6p21. [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Amelogenesis imperfecta
MedGen UID:
240
Concept ID:
C0002452
Congenital Abnormality
A developmental dysplasia of the dental enamel.
Enamel hypoplasia
MedGen UID:
3730
Concept ID:
C0011351
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
Leukonychia
MedGen UID:
68698
Concept ID:
C0240182
Finding
White discoloration of the nails.
Beau lines
MedGen UID:
537949
Concept ID:
C0263534
Sign or Symptom
A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease.
Macular dystrophy
MedGen UID:
196451
Concept ID:
C0730292
Disease or Syndrome
Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
Retinal pigment epithelial mottling
MedGen UID:
347513
Concept ID:
C1857644
Finding
Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.

Recent clinical studies

Etiology

Chen C, Hu G, Chen F, Liu K, Yu S, Xu X
Retina 2023 Jan 1;43(1):e1-e2. doi: 10.1097/IAE.0000000000003581. PMID: 36542084
Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV
Ophthalmic Genet 2018 Jun;39(3):384-390. doi: 10.1080/13816810.2018.1432063. PMID: 29676688

Diagnosis

Miranda V, Cortez L, Rosmaninho-Salgado J, Ramos F, Paiva C
J Pediatr Ophthalmol Strabismus 2024 Jan-Feb;61(1):59-66. Epub 2023 Apr 24 doi: 10.3928/01913913-20230220-01. PMID: 37092661
Chen C, Hu G, Chen F, Liu K, Yu S, Xu X
Retina 2023 Jan 1;43(1):e1-e2. doi: 10.1097/IAE.0000000000003581. PMID: 36542084
Bahena P, Daftarian N, Maroofian R, Linares P, Villalobos D, Mirrahimi M, Rad A, Doll J, Hofrichter MAH, Koparir A, Röder T, Han S, Sabbaghi H, Ahmadieh H, Behboudi H, Villanueva-Mendoza C, Cortés-Gonzalez V, Zamora-Ortiz R, Kohl S, Kuehlewein L, Darvish H, Alehabib E, Arenas-Sordo ML, Suri F, Vona B, Haaf T
Hum Genet 2022 Apr;141(3-4):785-803. Epub 2021 Jun 20 doi: 10.1007/s00439-021-02303-1. PMID: 34148116Free PMC Article
Gao FJ, Hu FY, Xu P, Qi YH, Li JK, Zhang YJ, Chen F, Chang Q, Song F, Shen SM, Xu GZ, Wu JH
Orphanet J Rare Dis 2019 Dec 12;14(1):290. doi: 10.1186/s13023-019-1243-x. PMID: 31831025Free PMC Article
Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV
Ophthalmic Genet 2018 Jun;39(3):384-390. doi: 10.1080/13816810.2018.1432063. PMID: 29676688

Prognosis

Bahena P, Daftarian N, Maroofian R, Linares P, Villalobos D, Mirrahimi M, Rad A, Doll J, Hofrichter MAH, Koparir A, Röder T, Han S, Sabbaghi H, Ahmadieh H, Behboudi H, Villanueva-Mendoza C, Cortés-Gonzalez V, Zamora-Ortiz R, Kohl S, Kuehlewein L, Darvish H, Alehabib E, Arenas-Sordo ML, Suri F, Vona B, Haaf T
Hum Genet 2022 Apr;141(3-4):785-803. Epub 2021 Jun 20 doi: 10.1007/s00439-021-02303-1. PMID: 34148116Free PMC Article
Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV
Ophthalmic Genet 2018 Jun;39(3):384-390. doi: 10.1080/13816810.2018.1432063. PMID: 29676688

Clinical prediction guides

Gao FJ, Hu FY, Xu P, Qi YH, Li JK, Zhang YJ, Chen F, Chang Q, Song F, Shen SM, Xu GZ, Wu JH
Orphanet J Rare Dis 2019 Dec 12;14(1):290. doi: 10.1186/s13023-019-1243-x. PMID: 31831025Free PMC Article

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