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 ⁵⁸ ⁷⁶

Hearing Loss, Sensorineural, with Enamel Hypoplasia and Nail Defects ⁵⁸ ⁷⁶

Deafness Enamel Hypoplasia Nail Defects ⁷⁶ ⁷⁴

Peroxisome Biogenesis Disorder 1c ⁵⁸ ⁷⁶

Hmlr1 ⁵⁸ ⁷⁶

Pbd1c ⁵⁸ ⁷⁶

Sensorineural Hearing Loss, Enamel Hypoplasia, and Nail Abnormalities ⁷⁶

Peroxisome Biogenesis Disorder 1c; Pbd1c ⁵⁸

Heimler Syndrome, Type 1 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

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 ⁵⁸ 234580

MeSH ⁴⁵ D000567 D006319 D009260

MedGen ⁴³ C1856186 C4551980

SNOMED-CT via HPO ⁷⁰ 111202002 258211005 26597004 more

UMLS ⁷⁴ C1856186

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Summaries for Heimler Syndrome 1

OMIM : ⁵⁸ 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 macular dystrophy and sensorineural hearing impairment

UniProtKB/Swiss-Prot : ⁷⁶ 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
1	deafness enamel hypoplasia nail defects	12.6
2	heimler syndrome 2	11.1
3	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
4	sensorineural hearing loss	10.3

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Symptoms & Phenotypes for Heimler Syndrome 1

Human phenotypes related to Heimler Syndrome 1:

³³

#	Description	HPO Frequency	HPO Source Accession
1	macular dystrophy ³³	occasional (7.5%)	HP:0007754
2	sensorineural hearing impairment ³³		HP:0000407
3	amelogenesis imperfecta ³³		HP:0000705
4	hypoplasia of dental enamel ³³		HP:0006297
5	leukonychia ³³		HP:0001820

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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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

Articles related to Heimler Syndrome 1:

#	Title	Authors	Year
1	Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. ( 2063923 )	Heimler A...Crespi P	1991

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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 ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ 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:

⁷⁶

#	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 22)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PEX1	NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs)	duplication	Pathogenic	rs794729652	GRCh37	Chromosome 7, 92120645: 92120645
2	PEX1	NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs)	duplication	Pathogenic	rs794729652	GRCh38	Chromosome 7, 92491331: 92491331
3	PEX1	NM_000466.2(PEX1): c.2114T> G (p.Leu705Trp)	single nucleotide variant	Uncertain significance	rs863225084	GRCh37	Chromosome 7, 92132467: 92132467
4	PEX1	NM_000466.2(PEX1): c.2114T> G (p.Leu705Trp)	single nucleotide variant	Uncertain significance	rs863225084	GRCh38	Chromosome 7, 92503153: 92503153
5	PEX1	NM_000466.2(PEX1): c.1742G> C (p.Arg581Pro)	single nucleotide variant	Pathogenic	rs370483961	GRCh37	Chromosome 7, 92136369: 92136369
6	PEX1	NM_000466.2(PEX1): c.1742G> C (p.Arg581Pro)	single nucleotide variant	Pathogenic	rs370483961	GRCh38	Chromosome 7, 92507055: 92507055
7	PEX1	NM_000466.2(PEX1): c.1239+1G> T	single nucleotide variant	Pathogenic	rs756876301	GRCh37	Chromosome 7, 92146589: 92146589
8	PEX1	NM_000466.2(PEX1): c.1239+1G> T	single nucleotide variant	Pathogenic	rs756876301	GRCh38	Chromosome 7, 92517275: 92517275
9	PEX1	NM_000466.2(PEX1): c.3750G> A (p.Trp1250Ter)	single nucleotide variant	Pathogenic	rs863225085	GRCh37	Chromosome 7, 92118624: 92118624
10	PEX1	NM_000466.2(PEX1): c.3750G> A (p.Trp1250Ter)	single nucleotide variant	Pathogenic	rs863225085	GRCh38	Chromosome 7, 92489310: 92489310
11	PEX1	NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)	single nucleotide variant	Pathogenic	rs61750420	GRCh37	Chromosome 7, 92130876: 92130876
12	PEX1	NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)	single nucleotide variant	Pathogenic	rs61750420	GRCh38	Chromosome 7, 92501562: 92501562
13	PEX1	NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs)	duplication	Pathogenic	rs61750415	GRCh37	Chromosome 7, 92132484: 92132484
14	PEX1	NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs)	duplication	Pathogenic	rs61750415	GRCh38	Chromosome 7, 92503170: 92503170
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
21	PEX1	NM_000466.2(PEX1): c.2876G> C (p.Arg959Pro)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 7, 92494537: 92494537
22	PEX1	NM_000466.2(PEX1): c.2876G> C (p.Arg959Pro)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 7, 92123851: 92123851

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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

¹ BioSystems

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³⁷ IUPHAR

³⁸ KEGG

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⁴⁰ LncRNADisease

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⁴² MalaCards

⁴³ MedGen

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⁴⁹ NCBI Bookshelf

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⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

Human phenotypes related to Heimler Syndrome 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Heimler Syndrome 1

Genetic Tests for Heimler Syndrome 1

Anatomical Context for Heimler Syndrome 1

Publications for Heimler Syndrome 1

Articles related to 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