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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): Gene(s) directly associated with this condition or phenotype.	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 impairment

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.

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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.

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Amelogenesis imperfecta

MedGen UID:: 240
•Concept ID:: C0002452
•: Congenital Abnormality

A developmental dysplasia of the dental enamel.

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Enamel hypoplasia

MedGen UID:: 3730
•Concept ID:: C0011351
•: Disease or Syndrome

Developmental hypoplasia of the dental enamel.

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Leukonychia

MedGen UID:: 68698
•Concept ID:: C0240182
•: Finding

White discoloration of the nails.

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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.

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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.

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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.

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Abnormality of head or neck
- Enamel hypoplasia
Abnormality of the ear
- Sensorineural hearing impairment
Abnormality of the eye
- Macular dystrophy
- Retinal pigment epithelial mottling
Abnormality of the integument
- Beau lines
- Leukonychia
Abnormality of the musculoskeletal system
- Amelogenesis imperfecta
Abnormality of the nervous system
- Intellectual disability

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDeafness, enamel hypoplasia, nail defect syndrome
- CROGVHeimler syndrome 1
- CROGVHeimler syndrome 2

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Ectodermal dysplasia
      - Deafness, enamel hypoplasia, nail defect syndrome
        Heimler syndrome 1

Recent clinical studies

Etiology

Ultra-Widefield Imaging of Retinal Flecks and Corresponding Subretinal Hyperreflective Deposits in Heimler Syndrome.

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

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.

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

See all (2)

Diagnosis

Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.

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

Ultra-Widefield Imaging of Retinal Flecks and Corresponding Subretinal Hyperreflective Deposits in Heimler Syndrome.

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

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

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: 34148116 Free PMC Article

Expanding the clinical and genetic spectrum of Heimler syndrome.

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: 31831025 Free PMC Article

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.

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

See all (6)

Prognosis

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.

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

See all (2)

Clinical prediction guides

Expanding the clinical and genetic spectrum of Heimler syndrome.

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: 31831025 Free PMC Article

See all (1)

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Heimler syndrome 1(HMLR1)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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