MCID: HML047
MIFTS: 19

Heimler Syndrome 1

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Heimler Syndrome 1

MalaCards integrated aliases for Heimler Syndrome 1:

Name: Heimler Syndrome 1 57 75
Hearing Loss, Sensorineural, with Enamel Hypoplasia and Nail Defects 57 75
Deafness Enamel Hypoplasia Nail Defects 75 73
Peroxisome Biogenesis Disorder 1c 57 75
Hmlr1 57 75
Pbd1c 57 75
Sensorineural Hearing Loss, Enamel Hypoplasia, and Nail Abnormalities 75
Peroxisome Biogenesis Disorder 1c; Pbd1c 57
Heimler Syndrome, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
heimler syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Heimler Syndrome 1

OMIM : 57 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). (234580)

MalaCards based summary : Heimler Syndrome 1, also known as hearing loss, sensorineural, with enamel hypoplasia and nail defects, is related to deafness enamel hypoplasia nail defects and heimler syndrome 2. An important gene associated with Heimler Syndrome 1 is PEX1 (Peroxisomal Biogenesis Factor 1). Related phenotypes are sensorineural hearing impairment and amelogenesis imperfecta

UniProtKB/Swiss-Prot : 75 Heimler syndrome 1: A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities.

Related Diseases for Heimler Syndrome 1

Diseases in the Heimler Syndrome 2 family:

Heimler Syndrome 1

Diseases related to Heimler Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness enamel hypoplasia nail defects 12.5
2 heimler syndrome 2 10.9

Symptoms & Phenotypes for Heimler Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
sensorineural hearing loss

Head And Neck Teeth:
normal primary teeth
amelogenesis imperfecta (secondary teeth)

Head And Neck Eyes:
retinal pigmentation abnormalities (in some patients)
macular dystrophy (rare)

Skin Nails Hair Nails:
beau's lines (fingernails and toenails)
punctate leukonychia


Clinical features from OMIM:

234580

Human phenotypes related to Heimler Syndrome 1:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 amelogenesis imperfecta 32 HP:0000705
3 leukonychia 32 HP:0001820
4 hypoplasia of dental enamel 32 HP:0006297
5 macular dystrophy 32 occasional (7.5%) HP:0007754

Drugs & Therapeutics for Heimler Syndrome 1

Search Clinical Trials , NIH Clinical Center for Heimler Syndrome 1

Genetic Tests for Heimler Syndrome 1

Anatomical Context for Heimler Syndrome 1

Publications for Heimler Syndrome 1

Variations for Heimler Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Heimler Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 PEX1 p.Arg581Pro VAR_074108 rs370483961
2 PEX1 p.Leu705Trp VAR_074109 rs863225084
3 PEX1 p.Ile989Thr VAR_077503 rs61750427

ClinVar genetic disease variations for Heimler Syndrome 1:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh37 Chromosome 7, 92132484: 92132484
2 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh38 Chromosome 7, 92503170: 92503170
3 PEX1 NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs) duplication Pathogenic rs794729652 GRCh37 Chromosome 7, 92120645: 92120645
4 PEX1 NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs) duplication Pathogenic rs794729652 GRCh38 Chromosome 7, 92491331: 92491331
5 PEX1 NM_000466.2(PEX1): c.2114T> G (p.Leu705Trp) single nucleotide variant Pathogenic rs863225084 GRCh37 Chromosome 7, 92132467: 92132467
6 PEX1 NM_000466.2(PEX1): c.2114T> G (p.Leu705Trp) single nucleotide variant Pathogenic rs863225084 GRCh38 Chromosome 7, 92503153: 92503153
7 PEX1 NM_000466.2(PEX1): c.1742G> C (p.Arg581Pro) single nucleotide variant Pathogenic rs370483961 GRCh37 Chromosome 7, 92136369: 92136369
8 PEX1 NM_000466.2(PEX1): c.1742G> C (p.Arg581Pro) single nucleotide variant Pathogenic rs370483961 GRCh38 Chromosome 7, 92507055: 92507055
9 PEX1 NM_000466.2(PEX1): c.1239+1G> T single nucleotide variant Pathogenic rs756876301 GRCh37 Chromosome 7, 92146589: 92146589
10 PEX1 NM_000466.2(PEX1): c.1239+1G> T single nucleotide variant Pathogenic rs756876301 GRCh38 Chromosome 7, 92517275: 92517275
11 PEX1 NM_000466.2(PEX1): c.3750G> A (p.Trp1250Ter) single nucleotide variant Pathogenic rs863225085 GRCh37 Chromosome 7, 92118624: 92118624
12 PEX1 NM_000466.2(PEX1): c.3750G> A (p.Trp1250Ter) single nucleotide variant Pathogenic rs863225085 GRCh38 Chromosome 7, 92489310: 92489310
13 PEX1 NM_000466.2(PEX1): c.2966T> C (p.Ile989Thr) single nucleotide variant Pathogenic rs61750427 GRCh38 Chromosome 7, 92494357: 92494357
14 PEX1 NM_000466.2(PEX1): c.2966T> C (p.Ile989Thr) single nucleotide variant Pathogenic rs61750427 GRCh37 Chromosome 7, 92123671: 92123671
15 PEX1 NM_000466.2(PEX1): c.1792delA (p.Thr598Glnfs) deletion Pathogenic rs886037783 GRCh38 Chromosome 7, 92507005: 92507005
16 PEX1 NM_000466.2(PEX1): c.1792delA (p.Thr598Glnfs) deletion Pathogenic rs886037783 GRCh37 Chromosome 7, 92136319: 92136319

Expression for Heimler Syndrome 1

Search GEO for disease gene expression data for Heimler Syndrome 1.

Pathways for Heimler Syndrome 1

GO Terms for Heimler Syndrome 1

Sources for Heimler Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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