Heimler Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 234580

MedGen ⁴² C1856186

MeSH ⁴⁴ D000567 D006319 D009260

SNOMED-CT via HPO ⁶⁹ 258211005 60700002 78494001 more

UMLS ⁷³ C1856186

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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.

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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	12.6
2	heimler syndrome 2	11.1

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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	macular dystrophy ³²	occasional (7.5%)	HP:0007754
4	hypoplasia of dental enamel ³²		HP:0006297
5	leukonychia ³²		HP:0001820

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Drugs & Therapeutics for Heimler Syndrome 1

Search Clinical Trials , NIH Clinical Center for Heimler Syndrome 1

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Genetic Tests for Heimler Syndrome 1

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Anatomical Context for Heimler Syndrome 1

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Publications for Heimler Syndrome 1

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Genes for Heimler Syndrome 1

Genes related to Heimler Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PEX1	Peroxisomal Biogenesis Factor 1	Protein Coding	1227.27	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)

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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 20)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PEX1	NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)	single nucleotide variant	Pathogenic	rs61750420	GRCh37	Chromosome 7, 92130876: 92130876
2	PEX1	NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)	single nucleotide variant	Pathogenic	rs61750420	GRCh38	Chromosome 7, 92501562: 92501562
3	PEX1	NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs)	duplication	Pathogenic	rs61750415	GRCh37	Chromosome 7, 92132484: 92132484
4	PEX1	NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs)	duplication	Pathogenic	rs61750415	GRCh38	Chromosome 7, 92503170: 92503170
5	PEX1	NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs)	duplication	Pathogenic	rs794729652	GRCh37	Chromosome 7, 92120645: 92120645
6	PEX1	NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs)	duplication	Pathogenic	rs794729652	GRCh38	Chromosome 7, 92491331: 92491331
7	PEX1	NM_000466.2(PEX1): c.2114T> G (p.Leu705Trp)	single nucleotide variant	Uncertain significance	rs863225084	GRCh37	Chromosome 7, 92132467: 92132467
8	PEX1	NM_000466.2(PEX1): c.2114T> G (p.Leu705Trp)	single nucleotide variant	Uncertain significance	rs863225084	GRCh38	Chromosome 7, 92503153: 92503153
9	PEX1	NM_000466.2(PEX1): c.1742G> C (p.Arg581Pro)	single nucleotide variant	Pathogenic	rs370483961	GRCh37	Chromosome 7, 92136369: 92136369
10	PEX1	NM_000466.2(PEX1): c.1742G> C (p.Arg581Pro)	single nucleotide variant	Pathogenic	rs370483961	GRCh38	Chromosome 7, 92507055: 92507055
11	PEX1	NM_000466.2(PEX1): c.1239+1G> T	single nucleotide variant	Pathogenic	rs756876301	GRCh37	Chromosome 7, 92146589: 92146589
12	PEX1	NM_000466.2(PEX1): c.1239+1G> T	single nucleotide variant	Pathogenic	rs756876301	GRCh38	Chromosome 7, 92517275: 92517275
13	PEX1	NM_000466.2(PEX1): c.3750G> A (p.Trp1250Ter)	single nucleotide variant	Pathogenic	rs863225085	GRCh37	Chromosome 7, 92118624: 92118624
14	PEX1	NM_000466.2(PEX1): c.3750G> A (p.Trp1250Ter)	single nucleotide variant	Pathogenic	rs863225085	GRCh38	Chromosome 7, 92489310: 92489310
15	PEX1	NM_000466.2(PEX1): c.2966T> C (p.Ile989Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61750427	GRCh38	Chromosome 7, 92494357: 92494357
16	PEX1	NM_000466.2(PEX1): c.2966T> C (p.Ile989Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61750427	GRCh37	Chromosome 7, 92123671: 92123671
17	PEX1	NM_000466.2(PEX1): c.1792delA (p.Thr598Glnfs)	deletion	Pathogenic	rs886037783	GRCh38	Chromosome 7, 92507005: 92507005
18	PEX1	NM_000466.2(PEX1): c.1792delA (p.Thr598Glnfs)	deletion	Pathogenic	rs886037783	GRCh37	Chromosome 7, 92136319: 92136319
19	PEX1	NM_001282678.1(PEX1): c.3132T> A (p.Asn1044Lys)	single nucleotide variant	Uncertain significance	rs553001596	GRCh38	Chromosome 7, 92489304: 92489304
20	PEX1	NM_001282678.1(PEX1): c.3132T> A (p.Asn1044Lys)	single nucleotide variant	Uncertain significance	rs553001596	GRCh37	Chromosome 7, 92118618: 92118618

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Expression for Heimler Syndrome 1

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

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Pathways for Heimler Syndrome 1

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GO Terms for Heimler Syndrome 1

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Sources for Heimler Syndrome 1

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⁷⁶ Wikipedia

Heimler Syndrome 1 (HMLR1)

Aliases & Classifications for Heimler Syndrome 1

MalaCards integrated aliases for Heimler Syndrome 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Heimler Syndrome 1

Related Diseases for Heimler Syndrome 1

Diseases in the Heimler Syndrome 2 family:

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

Symptoms & Phenotypes for Heimler Syndrome 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Heimler Syndrome 1:

Drugs & Therapeutics for Heimler Syndrome 1

Genetic Tests for Heimler Syndrome 1

Anatomical Context for Heimler Syndrome 1

Publications for Heimler Syndrome 1

Genes for Heimler Syndrome 1

Genes related to Heimler Syndrome 1 (1 elite genes):

Variations for Heimler Syndrome 1

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

ClinVar genetic disease variations for Heimler Syndrome 1:

Expression for Heimler Syndrome 1

Pathways for Heimler Syndrome 1

GO Terms for Heimler Syndrome 1

Sources for Heimler Syndrome 1