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

HMLR1 MCID: HML047 MIFTS: 38	Heimler Syndrome 1 (HMLR1) Categories: Ear diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Heimler Syndrome 1

MalaCards integrated aliases for Heimler Syndrome 1:

Name: Heimler Syndrome 1 ⁵⁷ ¹² ⁷³

Deafness Enamel Hypoplasia Nail Defects ²⁰ ⁷³ ²⁹ ⁶ ⁷¹

Sensorineural Hearing Loss, Enamel Hypoplasia, and Nail Abnormalities ²⁰ ⁷³

Hearing Loss, Sensorineural, with Enamel Hypoplasia and Nail Defects ⁵⁷ ⁷³

Deafness-Enamel Hypoplasia-Nail Defects Syndrome ¹² ⁵⁸

Peroxisome Biogenesis Disorder 1c ⁵⁷ ⁷³

Heimler Syndrome ²⁰ ⁵⁸

Hmlr1 ⁵⁷ ⁷³

Pbd1c ⁵⁷ ⁷³

Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia and Nail Defects ²⁰

Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome ⁵⁸

Peroxisome Biogenesis Disorder 1c; Pbd1c ⁵⁷

Peroxisomal Biogenesis Disorder 1c ¹²

Heimler Syndrome, Type 1 ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

deafness-enamel hypoplasia-nail defects syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

HPO:

³¹

heimler syndrome 1:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Ear diseases Skin diseases Oral diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare otorhinolaryngological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

Rare odontological diseases

External Ids:

Disease Ontology ¹² DOID:0080623

OMIM® ⁵⁷ 234580

OMIM Phenotypic Series ⁵⁷ PS214100

MeSH ⁴⁴ D000567 D006319 D009260

MESH via Orphanet ⁴⁵ C535994

UMLS via Orphanet ⁷² C1856186

Orphanet ⁵⁸ ORPHA3220

MedGen ⁴¹ C1856186 C4551980

UMLS ⁷¹ C1856186

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Summaries for Heimler Syndrome 1

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3220DefinitionDeafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Heimler Syndrome 1, also known as deafness enamel hypoplasia nail defects, is related to peroxisome biogenesis disorder 1a and amelogenesis imperfecta. An important gene associated with Heimler Syndrome 1 is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways is Peroxisome. Related phenotypes are intellectual disability and diabetes mellitus

Disease Ontology : ¹² A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has material basis in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21.

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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ 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.

Wikipedia : ⁷⁴ Heimler syndrome is a rare autosomal recessive condition characterized by sensorineural hearing loss,... more...

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Related Diseases for Heimler Syndrome 1

Diseases in the Heimler Syndrome 1 family:

Heimler Syndrome 2

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

(show all 30)

#	Related Disease	Score	Top Affiliating Genes
1	peroxisome biogenesis disorder 1a	30.7	PEX6 PEX1 GATAD1
2	amelogenesis imperfecta	29.7	PEX6 PEX1
3	sensorineural hearing loss	29.5	PEX6 PEX1
4	leukodystrophy	29.5	PEX6 PEX1
5	zellweger spectrum disorder	29.4	PEX6 PEX1 GATAD1
6	peroxisomal disease	29.3	PEX6 PEX1
7	fundus dystrophy	29.3	PEX6 PEX1 GATAD1
8	zellweger syndrome	29.2	PEX6 PEX1 GATAD1
9	heimler syndrome 2	10.9
10	retinitis pigmentosa-deafness syndrome	10.2
11	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.2
12	usher syndrome	10.2
13	inherited retinal disorder	10.2
14	retinitis pigmentosa	10.2
15	branchiootic syndrome 1	10.2
16	neuroretinitis	10.2
17	retinitis	10.2
18	retinal degeneration	10.1
19	usher syndrome, type i	9.9
20	usher syndrome type 2	9.9
21	macular retinal edema	9.9
22	nonsyndromic deafness	9.9
23	hypotonia	9.9
24	ciliopathy	9.9
25	adrenoleukodystrophy	9.7	PEX6 PEX1
26	peroxisomal biogenesis disorder	9.7	PEX6 PEX1
27	refsum disease, classic	9.7	PEX6 PEX1
28	rhizomelic chondrodysplasia punctata	9.6	PEX6 PEX1
29	neonatal adrenoleukodystrophy	9.4	PEX6 PEX1 GATAD1
30	peroxisome biogenesis disorder 1b	9.4	PEX6 PEX1 GATAD1

Graphical network of the top 20 diseases related to Heimler Syndrome 1:

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Symptoms & Phenotypes for Heimler Syndrome 1

Human phenotypes related to Heimler Syndrome 1:

⁵⁸ ³¹ (show all 39)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	diabetes mellitus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000819
3	sensorineural hearing impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000407
4	abnormal fingernail morphology ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001231
5	taurodontia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000679
6	abnormality of dental enamel ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000682
7	abnormal hair quantity ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011362
8	abnormal toenail morphology ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008388
9	hypogonadism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000135
10	abnormality of nail color ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100643
11	pili torti ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003777
12	external genital hypoplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003241
13	thin eyebrow ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0045074
14	abnormal nasolacrimal system morphology ³¹	hallmark (90%)		HP:0000614
15	abnormal eyelid morphology ³¹	hallmark (90%)		HP:0000492
16	short stature ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004322
17	primary amenorrhea ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000786
18	arrhythmia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011675
19	round face ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000311
20	large hands ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001176
21	cerebral calcification ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002514
22	delayed skeletal maturation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002750
23	ichthyosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008064
24	high anterior hairline ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0009890
25	sensory neuropathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000763
26	hyporeflexia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001265
27	camptodactyly of finger ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100490
28	acanthosis nigricans ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000956
29	muscle flaccidity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010547
30	macular dystrophy ³¹	occasional (7.5%)		HP:0007754
31	hearing impairment ⁵⁸		Very frequent (99-80%)
32	abnormality of the dentition ⁵⁸		Very frequent (99-80%)
33	abnormality of the eyelid ⁵⁸		Very frequent (99-80%)
34	peripheral neuropathy ⁵⁸		Occasional (29-5%)
35	abnormality of the eyebrow ⁵⁸		Very frequent (99-80%)
36	abnormality of the nasolacrimal system ⁵⁸		Very frequent (99-80%)
37	amelogenesis imperfecta ³¹			HP:0000705
38	hypoplasia of dental enamel ³¹			HP:0006297
39	leukonychia ³¹			HP:0001820

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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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

Genetic tests related to Heimler Syndrome 1:

#	Genetic test	Affiliating Genes
1	Deafness Enamel Hypoplasia Nail Defects ²⁹	PEX1

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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:

(show all 13)

#	Title	Authors	PMID	Year
1	Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. ⁶¹ ⁶ ⁵⁷	Heimler A...Crespi P	2063923	1991
2	Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. ⁵⁷ ⁶	Ratbi I...Van Camp G	26387595	2015
3	PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. ⁶	Zaki MS...Bolz HJ	26593283	2016
4	Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. ⁶	Ebberink MS...Waterham HR	19877282	2010
5	Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. ⁶	Yik WY...Hacia JG	19105186	2009
6	Peroxisome biogenesis disorders. ⁶	Steinberg SJ...Moser HW	17055079	2006
7	Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls. ⁶	Ong KR...Brueton LA	16530715	2006
8	The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. ⁶	Steinberg S...Braverman N	15542397	2004
9	Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome. ⁵⁷	Pollak C...Say B	12514367	2003
10	Amelogenesis imperfecta, sensorineural hearing loss, and Beau's lines, a second case report of Heimler's syndrome. ⁵⁷	Tischkowitz M...Verhoef S	10636745	1999
11	Identification of a common PEX1 mutation in Zellweger syndrome. ⁶	Collins CS...Gould SJ	10447258	1999
12	Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. ⁶	Reuber BE...Gould SJ	9398847	1997
13	Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. ⁶	Gartner J...Valle D	1301993	1992

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Genes for Heimler Syndrome 1

Genes related to Heimler Syndrome 1 (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PEX1	Peroxisomal Biogenesis Factor 1	Protein Coding	1691.59	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)
2	PEX6	Peroxisomal Biogenesis Factor 6	Protein Coding	775	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Likely pathogenic ⁶	26593283 26387595 16530715 (more) 19105186 19877282 15542397
3	GATAD1	GATA Zinc Finger Domain Containing 1	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	26387595

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Variations for Heimler Syndrome 1

ClinVar genetic disease variations for Heimler Syndrome 1:

⁶ (show all 40)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GATAD1	NM_000466.3(PEX1):c.3750G>A (p.Trp1250Ter)	SNV	Pathogenic	217431	rs863225085	7:92118624-92118624	7:92489310-92489310
2	PEX1	NM_000466.3(PEX1):c.1792del (p.Thr598fs)	Deletion	Pathogenic	224324	rs886037783	7:92136319-92136319	7:92507005-92507005
3	PEX1	NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	SNV	Pathogenic	217429	rs370483961	7:92136369-92136369	7:92507055-92507055
4	PEX6	NM_000287.4(PEX6):c.1841del (p.Leu614fs)	Deletion	Pathogenic	217426	rs863225083	6:42935149-42935149	6:42967411-42967411
5	PEX1	NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp)	SNV	Pathogenic	217428	rs863225084	7:92132467-92132467	7:92503153-92503153
6	PEX6	NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)	SNV	Pathogenic	217424	rs61753219	6:42946068-42946068	6:42978330-42978330
7	PEX6	NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	SNV	Pathogenic	198709	rs34324426	6:42935188-42935188	6:42967450-42967450
8	PEX6	NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp)	SNV	Pathogenic	217425	rs769896492	6:42934551-42934551	6:42966813-42966813
9	PEX1	NM_000466.3(PEX1):c.1239+1G>T	SNV	Pathogenic	217430	rs756876301	7:92146589-92146589	7:92517275-92517275
10	PEX6	NM_000287.4(PEX6):c.296G>T (p.Arg99Leu)	SNV	Pathogenic	224320	rs886037781	6:42946593-42946593	6:42978855-42978855
11	PEX6	NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)	SNV	Pathogenic	224323	rs61753224	6:42935275-42935275	6:42967537-42967537
12	PEX6	NM_000287.4(PEX6):c.654C>G (p.Phe218Leu)	SNV	Pathogenic	224318	rs886037779	6:42946235-42946235	6:42978497-42978497
13	PEX6	NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)	Deletion	Pathogenic	224321	rs267608216	6:42937452-42937459	6:42969714-42969721
14	PEX6	NM_000287.4(PEX6):c.275T>G (p.Val92Gly)	SNV	Pathogenic	224319	rs886037780	6:42946614-42946614	6:42978876-42978876
15	GATAD1	NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	SNV	Pathogenic	224325	rs61750427	7:92123671-92123671	7:92494357-92494357
16	PEX6	NM_000287.4(PEX6):c.2714G>T (p.Cys905Phe)	SNV	Pathogenic	224322	rs886037782	6:42932620-42932620	6:42964882-42964882
17	PEX6	NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)	SNV	Pathogenic	194165	rs267608241	6:42933450-42933450	6:42965712-42965712
18	PEX6	NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	SNV	Pathogenic	198709	rs34324426	6:42935188-42935188	6:42967450-42967450
19	PEX6	NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)	SNV	Pathogenic	556748	rs1554127531	6:42937535-42937535	6:42969797-42969797
20	PEX1	NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	Duplication	Pathogenic	7519	rs61750415	7:92132483-92132484	7:92503169-92503170
21	PEX1	NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	SNV	Pathogenic	7516	rs61750420	7:92130876-92130876	7:92501562-92501562
22	PEX1	NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	SNV	Pathogenic	7516	rs61750420	7:92130876-92130876	7:92501562-92501562
23	PEX1	NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	Duplication	Pathogenic	7519	rs61750415	7:92132483-92132484	7:92503169-92503170
24	GATAD1	NM_000466.3(PEX1):c.3379dup (p.Arg1127fs)	Duplication	Pathogenic	203390	rs794729652	7:92120644-92120645	7:92491330-92491331
25	PEX6	NM_000287.4(PEX6):c.386A>T (p.Glu129Val)	SNV	Likely pathogenic	625158	rs1561831003	6:42946503-42946503	6:42978765-42978765
26	GATAD1	NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)	SNV	Likely pathogenic	495880	rs61750428	7:92123645-92123645	7:92494331-92494331
27	PEX6	NM_000287.4(PEX6):c.2300+2T>C	SNV	Likely pathogenic	804456	rs1581760028	6:42933978-42933978	6:42966240-42966240
28	PEX1	NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	SNV	Likely pathogenic	7517	rs121434455	7:92134126-92134126	7:92504812-92504812
29	GATAD1	NM_000466.3(PEX1):c.2922del (p.Leu974fs)	Deletion	Likely pathogenic	371696	rs762324548	7:92123805-92123805	7:92494491-92494491
30	PEX6	NM_000287.4(PEX6):c.719C>G (p.Ala240Gly)	SNV	Uncertain significance	288056	rs372269200	6:42946170-42946170	6:42978432-42978432
31	GATAD1	NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)	SNV	Uncertain significance	282718	rs182452430	7:92119161-92119161	7:92489847-92489847
32	PEX1	NM_000466.3(PEX1):c.2750C>T (p.Ala917Val)	SNV	Uncertain significance	288721	rs371327573	7:92126060-92126060	7:92496746-92496746
33	PEX1	NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn)	SNV	Uncertain significance	498412	rs143273433	7:92143272-92143272	7:92513958-92513958
34	PEX1	NM_000466.3(PEX1):c.665C>T (p.Thr222Ile)	SNV	Uncertain significance	197673	rs773922257	7:92147164-92147164	7:92517850-92517850
35	PEX1	NM_000466.3(PEX1):c.254G>A (p.Gly85Glu)	SNV	Uncertain significance	502318	rs771224088	7:92151435-92151435	7:92522121-92522121
36	PEX1	NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)	SNV	Uncertain significance	971689		7:92132381-92132381	7:92503067-92503067
37	PEX6	NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)	SNV	Uncertain significance	356795	rs140769712	6:42935272-42935272	6:42967534-42967534
38	GATAD1	NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)	SNV	Uncertain significance	548004	rs553001596	7:92118618-92118618	7:92489304-92489304
39	GATAD1	NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro)	SNV	Uncertain significance	587523	rs773206107	7:92123851-92123851	7:92494537-92494537
40	GATAD1	NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)	SNV	Likely benign	360915	rs142994610	7:92120651-92120651	7:92491337-92491337

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

⁷³

#	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

Sources

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

Pathways related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Peroxisome ³⁶	10.54	PEX6 PEX1

Sources

GO Terms for Heimler Syndrome 1

Cellular components related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	peroxisome	GO:0005777	8.96	PEX6 PEX1
2	peroxisomal membrane	GO:0005778	8.62	PEX6 PEX1

Biological processes related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein targeting to peroxisome	GO:0006625	9.16	PEX6 PEX1
2	peroxisome organization	GO:0007031	8.96	PEX6 PEX1
3	protein import into peroxisome matrix	GO:0016558	8.62	PEX6 PEX1

Molecular functions related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex binding	GO:0044877	9.16	PEX6 PEX1
2	ATPase activity	GO:0016887	8.96	PEX6 PEX1
3	protein C-terminus binding	GO:0008022	8.62	PEX6 PEX1

Sources

Sources for Heimler Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Heimler Syndrome 1 (HMLR1)

Aliases & Classifications for Heimler Syndrome 1

MalaCards integrated aliases for Heimler Syndrome 1:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Heimler Syndrome 1

Related Diseases for Heimler Syndrome 1

Diseases in the Heimler Syndrome 1 family:

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

Graphical network of the top 20 diseases related to Heimler Syndrome 1:

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

Genetic tests related to 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 (3 elite genes):

Variations for Heimler Syndrome 1

ClinVar genetic disease variations for Heimler Syndrome 1:

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

Expression for Heimler Syndrome 1

Pathways for Heimler Syndrome 1

Pathways related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

GO Terms for Heimler Syndrome 1

Cellular components related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

Biological processes related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

Molecular functions related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

Sources for Heimler Syndrome 1