Leukodystrophy, Hypomyelinating, 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 4

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 4:

Name: Leukodystrophy, Hypomyelinating, 4 ⁵⁷ ⁷³ ¹² ⁷¹

Mitochondrial Hsp60 Chaperonopathy ⁵⁷ ¹¹ ⁵⁸ ⁷³

Hypomyelinating Leukodystrophy 4 ¹¹ ²⁸ ⁵ ¹⁴

Mitchap60 Disease ⁵⁷ ¹¹ ⁷³

Hld4 ⁵⁷ ¹¹ ⁷³

Pelizaeus-Merzbacher-Like Disease Due to Hspd1 Mutation ¹¹ ⁵⁸

Leukodystrophy, Hypomyelinating, Type 4 ³⁸

Mitchap-60 Disease ⁷³

Characteristics:

Inheritance:

Leukodystrophy, Hypomyelinating, 4: Autosomal recessive ⁵⁷

Pelizaeus-Merzbacher-Like Disease Due to Hspd1 Mutation: Autosomal recessive ⁵⁸

Age Of Onset:

Pelizaeus-Merzbacher-Like Disease Due to Hspd1 Mutation: Infancy,Neonatal ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset between birth and 3 months of age
usually fatal in first 2 decades
exacerbation during febrile episodes
allelic disorder to autosomal dominant spg13

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Other sphingolipidosis

Orphanet: ⁵⁸

Rare neurological diseases

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Summaries for Leukodystrophy, Hypomyelinating, 4

UniProtKB/Swiss-Prot: ⁷³ A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound intellectual disability. Death usually occurs within the first two decades of life.

MalaCards based summary: Leukodystrophy, Hypomyelinating, 4, also known as mitochondrial hsp60 chaperonopathy, is related to pelizaeus-merzbacher-like disease and leukodystrophy, hypomyelinating, 2, and has symptoms including apnea, seizures and shallow breathing. An important gene associated with Leukodystrophy, Hypomyelinating, 4 is HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1). Affiliated tissues include brain and peripheral nerve, and related phenotypes are seizure and hyperreflexia

Disease Ontology: ¹¹ A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has material basis in homozygous mutation in the HSPD1 gene on chromosome 2q33.

More information from OMIM: 612233 PS312080

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Related Diseases for Leukodystrophy, Hypomyelinating, 4

Diseases in the Hypomyelinating Leukodystrophy family:

Leukodystrophy, Hypomyelinating, 3	Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Hypomyelinating, 5	Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 6	Leukodystrophy, Hypomyelinating, 9
Leukodystrophy, Hypomyelinating, 10	Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Hypomyelinating, 12	Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Hypomyelinating, 14	Leukodystrophy, Hypomyelinating, 15
Leukodystrophy, Hypomyelinating, 16	Leukodystrophy, Hypomyelinating, 17
Leukodystrophy, Hypomyelinating, 18	Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Leukodystrophy, Hypomyelinating, 20	Leukodystrophy, Hypomyelinating, 21
Leukodystrophy, Hypomyelinating, 22	Leukodystrophy, Hypomyelinating, 24

Diseases related to Leukodystrophy, Hypomyelinating, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)

#	Related Disease	Score	Top Affiliating Genes
1	pelizaeus-merzbacher-like disease	30.5	PLP1 GJC2
2	leukodystrophy, hypomyelinating, 2	30.3	PLP1 GJC2
3	spastic paraplegia 13, autosomal dominant	30.2	HSPE1 HSPD1 GJC2 CRYAA
4	paraplegia	30.1	PLP1 HSPD1 GJC2 CCT5
5	pelizaeus-merzbacher disease	29.3	TUBB4A POLR3A PLP1 HYCC1 HIKESHI GJC2
6	leukodystrophy	28.3	TUBB4A TMEM63A PYCR2 POLR3A PLP1 HYCC1
7	sennetsu fever	10.2	HSPE1 HSPD1
8	carrion's disease	10.2	HSPE1 HSPD1
9	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.2
10	47 xxx syndrome	10.2
11	hallermann-streiff syndrome	10.2	GJC2 CRYAA
12	spastic paraplegia 25, autosomal recessive	10.2	TMEM63A POLR3A
13	tularemia	10.2	HSPE1 HSPD1
14	primary systemic mycosis	10.1	HYCC1 HSPD1
15	pathologic nystagmus	10.1	TMEM63A CRYAA
16	spastic paraplegia 75, autosomal recessive	10.1	PLP1 GJC2
17	spastic paraplegia 44, autosomal recessive	10.1	PLP1 GJC2
18	leukodystrophy, hypomyelinating, 11	10.0	TMEM63A POLR3A HIKESHI
19	alexander disease	10.0	PLP1 GJC2 CRYAA
20	congenital nystagmus	10.0	TMEM63A CRYAA
21	leukoencephalopathy with vanishing white matter	10.0	POLR3A PLP1 GJC2
22	allan-herndon-dudley syndrome	10.0	PLP1 HIKESHI
23	megalencephalic leukoencephalopathy with subcortical cysts	10.0	TMEM63A PLP1 GJC2
24	complement component 7 deficiency	10.0	HSPD1 HSPA9
25	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	10.0	PLP1 HIKESHI GJC2
26	leukodystrophy, hypomyelinating, 9	9.9	POLR3A HYCC1 HIKESHI GJC2
27	spastic ataxia 8	9.9	PYCR2 HYCC1 HIKESHI
28	leukodystrophy, hypomyelinating, 13	9.9	PYCR2 HYCC1 HIKESHI
29	spastic ataxia	9.9	POLR3A PLP1 GJC2 CRYAA
30	leukodystrophy, hypomyelinating, 3	9.9	POLR3A PLP1 HYCC1 GJC2
31	cerebral degeneration	9.9	POLR3A PLP1 GJC2 CRYAA
32	codas syndrome	9.9	LONP1 HSPA9
33	leukodystrophy, hypomyelinating, 10	9.8	PYCR2 POLR3A HYCC1 HIKESHI
34	spastic paraplegia 2, x-linked	9.8	PLP1 GJC2
35	leukodystrophy, hypomyelinating, 12	9.8	PYCR2 HYCC1 HIKESHI GJC2
36	hypomyelinating leukoencephalopathy	9.8	POLR3A PLP1 HYCC1 HIKESHI GJC2
37	leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	9.6	TMEM63A POLR3A PLP1 HYCC1 HIKESHI GJC2
38	charcot-marie-tooth disease	9.6	PLP1 HIP1 GJC2 CRYAA
39	megalencephalic leukoencephalopathy with subcortical cysts 2a	9.6	TUBB4A PLP1 HSPD1 HIP1
40	leukodystrophy, hypomyelinating, 5	9.5	TUBB4A POLR3A PLP1 HYCC1 GJC2
41	leukodystrophy, hypomyelinating, 6	9.4	TUBB4A PYCR2 POLR3A PLP1 GJC2
42	hypomyelinating leukodystrophy	8.6	TUBB4A TMEM63A PYCR2 POLR3A PLP1 HYCC1
43	hereditary spastic paraplegia	8.6	TUBB4A POLR3A PLP1 LONP1 HSPE1 HSPD1

Graphical network of the top 20 diseases related to Leukodystrophy, Hypomyelinating, 4:

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Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 4

Human phenotypes related to Leukodystrophy, Hypomyelinating, 4:

³⁰ (show all 16)

#	Description	HPO Source Accession
1	seizure ³⁰	HP:0001250
2	hyperreflexia ³⁰	HP:0001347
3	nystagmus ³⁰	HP:0000639
4	hypotonia ³⁰	HP:0001252
5	global developmental delay ³⁰	HP:0001263
6	flexion contracture ³⁰	HP:0001371
7	feeding difficulties in infancy ³⁰	HP:0008872
8	strabismus ³⁰	HP:0000486
9	apnea ³⁰	HP:0002104
10	progressive spasticity ³⁰	HP:0002191
11	babinski sign ³⁰	HP:0003487
12	leukodystrophy ³⁰	HP:0002415
13	choreoathetosis ³⁰	HP:0001266
14	intellectual disability, profound ³⁰	HP:0002187
15	generalized hypotonia ³⁰	HP:0001290
16	secondary microcephaly ³⁰	HP:0005484

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neurologic Central Nervous System:
hyperreflexia
hypotonia
choreoathetosis
seizures
extensor plantar responses
more

Abdomen Gastrointestinal:
feeding difficulties

Skeletal:
joint contractures

Laboratory Abnormalities:
intermittent increase of urinary ethylmalonic acid
serum lactate may be increased during encephalopathic exacerbations

Head And Neck Eyes:
nystagmus
strabismus

Respiratory:
shallow breathing
apneic episodes

Head And Neck Head:
microcephaly, acquired

Clinical features from OMIM®:

612233 (Updated 08-Dec-2022)

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 4:

apnea; seizures; shallow breathing

MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 4:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.65	CCT5 GJC2 HIP1 HSPD1 HYCC1 PLP1
2	mortality/aging	MP:0010768	9.36	CCT5 GJC2 HIKESHI HIP1 HSPA9 HSPD1

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Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 4

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 4

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Genetic Tests for Leukodystrophy, Hypomyelinating, 4

Genetic tests related to Leukodystrophy, Hypomyelinating, 4:

#	Genetic test	Affiliating Genes
1	Hypomyelinating Leukodystrophy 4 ²⁸	HSPD1

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Anatomical Context for Leukodystrophy, Hypomyelinating, 4

Organs/tissues related to Leukodystrophy, Hypomyelinating, 4:

MalaCards : Brain

ODiseA: Peripheral Nerve, Brain

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Publications for Leukodystrophy, Hypomyelinating, 4

Articles related to Leukodystrophy, Hypomyelinating, 4:

#	Title	Authors	PMID	Year
1	Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient. ⁶² ⁵⁷ ⁵	Kusk MS...Ostergaard E	27405012	2016
2	Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. ⁶² ⁵⁷ ⁵	Magen D...Mandel H	18571143	2008
3	A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy. ⁶²	Antona V...Giuffre M	33076433	2020
4	A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy. ⁶²	Comert C...Bross P	32532876	2020
5	Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties. ⁶²	Miyamoto Y...Yamauchi J	28275661	2017
6	Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics. ⁶²	Miyamoto Y...Yamauchi J	25957474	2015
7	Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice. ⁶²	Magnoni R...Bross P	23466696	2013
8	A cell model to study different degrees of Hsp60 deficiency in HEK293 cells. ⁶²	Bie AS...Bross P	21717087	2011
9	The MitCHAP-60 disease is due to entropic destabilization of the human mitochondrial Hsp60 oligomer. ⁶²	Parnas A...Azem A	19706612	2009

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Genes for Leukodystrophy, Hypomyelinating, 4

Genes related to Leukodystrophy, Hypomyelinating, 4 (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HSPD1	Heat Shock Protein Family D (Hsp60) Member 1	Protein Coding	1690.14	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	18571143 27405012
2	POLR3A	RNA Polymerase III Subunit A	Protein Coding	29.55	Likely pathogenic ⁵ DISEASES inferred ¹⁴
3	CRYAA	Crystallin Alpha A	Protein Coding	7.93	DISEASES inferred ¹⁴ ¹⁴
4	HSPE1	Heat Shock Protein Family E (Hsp10) Member 1	Protein Coding	6.64	DISEASES inferred ¹⁴
5	HYCC1	Hyccin PI4KA Lipid Kinase Complex Subunit 1	Protein Coding	6.47	DISEASES inferred ¹⁴
6	GJC2	Gap Junction Protein Gamma 2	Protein Coding	6.41	DISEASES inferred ¹⁴
7	HIKESHI	Heat Shock Protein Nuclear Import Factor Hikeshi	Protein Coding	6.2	DISEASES inferred ¹⁴
8	TMEM63A	Transmembrane Protein 63A	Protein Coding	6.13	DISEASES inferred ¹⁴
9	PLP1	Proteolipid Protein 1	Protein Coding	5.81	DISEASES inferred ¹⁴
10	CCT5	Chaperonin Containing TCP1 Subunit 5	Protein Coding	5.46	DISEASES inferred ¹⁴
11	HIP1	Huntingtin Interacting Protein 1	Protein Coding	5.44	DISEASES inferred ¹⁴
12	PYCR2	Pyrroline-5-Carboxylate Reductase 2	Protein Coding	5.32	DISEASES inferred ¹⁴
13	HSPA9	Heat Shock Protein Family A (Hsp70) Member 9	Protein Coding	5.25	DISEASES inferred ¹⁴
14	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	5.23	DISEASES inferred ¹⁴
15	LONP1	Lon Peptidase 1, Mitochondrial	Protein Coding	5.22	DISEASES inferred ¹⁴

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Variations for Leukodystrophy, Hypomyelinating, 4

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 4:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	HSPD1	NM_002156.5(HSPD1):c.86A>G (p.Asp29Gly)	SNV	Pathogenic	17558	rs72466451	GRCh37: 2:198363487-198363487 GRCh38: 2:197498763-197498763
2	POLR3A	NM_007055.4(POLR3A):c.2471A>C (p.His824Pro)	SNV	Likely Pathogenic	590969	rs1564617866	GRCh37: 10:79760741-79760741 GRCh38: 10:78000983-78000983
3	HSPD1	NM_002156.5(HSPD1):c.139T>G (p.Leu47Val)	SNV	Likely Pathogenic	816623	rs2086193735	GRCh37: 2:198363434-198363434 GRCh38: 2:197498710-197498710
4	HSPD1	NM_002156.5(HSPD1):c.947T>C (p.Met316Thr)	SNV	Uncertain Significance	1029563	rs528363238	GRCh37: 2:198354943-198354943 GRCh38: 2:197490219-197490219
5	HSPD1	NM_002156.5(HSPD1):c.1394_1406del (p.Ile465fs)	DEL	Uncertain Significance	976190	rs2086047405	GRCh37: 2:198352745-198352757 GRCh38: 2:197488021-197488033
6	HSPD1	NM_002156.5(HSPD1):c.1712G>T (p.Gly571Val)	SNV	Uncertain Significance	410975	rs374322039	GRCh37: 2:198351780-198351780 GRCh38: 2:197487056-197487056
7	HSPD1	NM_002156.5(HSPD1):c.871C>G (p.Leu291Val)	SNV	Uncertain Significance	410974	rs139649754	GRCh37: 2:198355019-198355019 GRCh38: 2:197490295-197490295
8	HSPD1	NM_002156.5(HSPD1):c.1257C>A (p.Asp419Glu)	SNV	Uncertain Significance	1705500		GRCh37: 2:198353174-198353174 GRCh38: 2:197488450-197488450
9	HSPD1	NM_002156.5(HSPD1):c.1681A>G (p.Met561Val)	SNV	Likely Benign	800207	rs371969794	GRCh37: 2:198351811-198351811 GRCh38: 2:197487087-197487087
10	HSPD1	NM_002156.5(HSPD1):c.273A>G (p.Lys91=)	SNV	Benign	129241	rs8539	GRCh37: 2:198362018-198362018 GRCh38: 2:197497294-197497294

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 4:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	HSPD1	p.Asp29Gly	VAR_054785	rs72466451

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Expression for Leukodystrophy, Hypomyelinating, 4

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 4.

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Pathways for Leukodystrophy, Hypomyelinating, 4

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GO Terms for Leukodystrophy, Hypomyelinating, 4

Cellular components related to Leukodystrophy, Hypomyelinating, 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial matrix	GO:0005759	9.65	PYCR2 LONP1 HSPE1 HSPD1 HSPA9
2	myelin sheath	GO:0043209	9.1	TUBB4A PLP1 GJC2

Biological processes related to Leukodystrophy, Hypomyelinating, 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein stabilization	GO:0050821	9.86	HSPD1 HIP1 CRYAA CCT5
2	activation of cysteine-type endopeptidase activity involved in apoptotic process	GO:0006919	9.8	HSPE1 HSPD1 HIP1
3	protein folding	GO:0006457	9.7	HSPE1 HSPD1 HSPA9 CCT5
4	chaperone-mediated protein complex assembly	GO:0051131	9.67	HSPD1 LONP1
5	protein refolding	GO:0042026	9.43	CRYAA HSPA9 HSPD1
6	positive regulation of calcium ion transmembrane transport	GO:1904427	8.92	PLP1 GJC2

Molecular functions related to Leukodystrophy, Hypomyelinating, 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	unfolded protein binding	GO:0051082	9.65	HSPE1 HSPD1 HSPA9 CRYAA CCT5
2	ATP-dependent protein folding chaperone	GO:0140662	9.23	HSPE1 HSPD1 HSPA9 CCT5

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Sources for Leukodystrophy, Hypomyelinating, 4

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⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

HLD4 MCID: LKD008 MIFTS: 39	Leukodystrophy, Hypomyelinating, 4 (HLD4) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Leukodystrophy, Hypomyelinating, 4 (HLD4)

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 4

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 4:

Characteristics:

Inheritance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Leukodystrophy, Hypomyelinating, 4

Related Diseases for Leukodystrophy, Hypomyelinating, 4

Diseases in the Hypomyelinating Leukodystrophy family:

Diseases related to Leukodystrophy, Hypomyelinating, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Leukodystrophy, Hypomyelinating, 4:

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 4

Human phenotypes related to Leukodystrophy, Hypomyelinating, 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 4:

MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 4:

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 4

Genetic Tests for Leukodystrophy, Hypomyelinating, 4

Genetic tests related to Leukodystrophy, Hypomyelinating, 4:

Anatomical Context for Leukodystrophy, Hypomyelinating, 4

Organs/tissues related to Leukodystrophy, Hypomyelinating, 4:

Publications for Leukodystrophy, Hypomyelinating, 4

Articles related to Leukodystrophy, Hypomyelinating, 4:

Genes for Leukodystrophy, Hypomyelinating, 4

Genes related to Leukodystrophy, Hypomyelinating, 4 (1 elite genes):

Variations for Leukodystrophy, Hypomyelinating, 4

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 4:

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 4:

Expression for Leukodystrophy, Hypomyelinating, 4

Pathways for Leukodystrophy, Hypomyelinating, 4

GO Terms for Leukodystrophy, Hypomyelinating, 4

Cellular components related to Leukodystrophy, Hypomyelinating, 4 according to GeneCards Suite gene sharing:

Biological processes related to Leukodystrophy, Hypomyelinating, 4 according to GeneCards Suite gene sharing:

Molecular functions related to Leukodystrophy, Hypomyelinating, 4 according to GeneCards Suite gene sharing:

Sources for Leukodystrophy, Hypomyelinating, 4