Leukodystrophy, Hypomyelinating, 22 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 22

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 22:

Name: Leukodystrophy, Hypomyelinating, 22 ⁵⁷ ⁷³ ²⁸ ⁵

Hld22 ⁵⁷ ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in infancy
de novo mutation
three unrelated patients have been reported (last curated may 2021)

Classifications:

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

See all MalaCards categories (disease lists)

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Summaries for Leukodystrophy, Hypomyelinating, 22

OMIM®: ⁵⁷ Hypomyelinating leukodystrophy-22 (HLD22) is a neurologic disorder characterized by global developmental delay with mildly impaired intellectual development and marked motor impairment with limited or no ability to walk and dysarthria. Affected individuals have limb spasticity with pyramidal signs, as well as nystagmus, hypermetropia, and astigmatism. Brain imaging shows hypomyelination and a delay in myelination, although serial imaging shows some progress in both the central and peripheral white matter regions (Riedhammer et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (619328) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Hypomyelinating, 22, is also known as hld22. An important gene associated with Leukodystrophy, Hypomyelinating, 22 is CLDN11 (Claudin 11). Affiliated tissues include brain, eye and cerebellum, and related phenotypes are nystagmus and dysarthria

UniProtKB/Swiss-Prot: ⁷³ An autosomal dominant disorder characterized by global developmental delay, mildly impaired intellectual development, motor impairment, limb spasticity, dysarthria, and eye abnormalities including hypermetropia. Brain imaging shows hypomyelinating leukodystrophy.

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Related Diseases for Leukodystrophy, Hypomyelinating, 22

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

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Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 22

Human phenotypes related to Leukodystrophy, Hypomyelinating, 22:

³⁰ (show all 21)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³⁰	Very rare (1%)	HP:0000639
2	dysarthria ³⁰	Very rare (1%)	HP:0001260
3	short neck ³⁰	Very rare (1%)	HP:0000470
4	delayed speech and language development ³⁰	Very rare (1%)	HP:0000750
5	pes planus ³⁰	Very rare (1%)	HP:0001763
6	flexion contracture ³⁰	Very rare (1%)	HP:0001371
7	strabismus ³⁰	Very rare (1%)	HP:0000486
8	babinski sign ³⁰	Very rare (1%)	HP:0003487
9	intellectual disability, borderline ³⁰	Very rare (1%)	HP:0006889
10	astigmatism ³⁰	Very rare (1%)	HP:0000483
11	optic disc pallor ³⁰	Very rare (1%)	HP:0000543
12	hypermetropia ³⁰	Very rare (1%)	HP:0000540
13	cns hypomyelination ³⁰	Very rare (1%)	HP:0003429
14	inability to walk ³⁰	Very rare (1%)	HP:0002540
15	lower limb hypertonia ³⁰	Very rare (1%)	HP:0006895
16	drooling ³⁰	Very rare (1%)	HP:0002307
17	lower limb hyperreflexia ³⁰	Very rare (1%)	HP:0002395
18	upper limb hypertonia ³⁰	Very rare (1%)	HP:0200049
19	delayed ability to sit ³⁰	Very rare (1%)	HP:0025336
20	delayed ability to walk ³⁰	Very rare (1%)	HP:0031936
21	axial hypotonia ³⁰	Very rare (1%)	HP:0008936

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neurologic Central Nervous System:
spasticity
hyperreflexia
dysarthria
global developmental delay
pyramidal signs
more

Muscle Soft Tissue:
hypertonia

Skeletal Feet:
flat feet

Head And Neck Neck:
neck arching

Head And Neck Eyes:
nystagmus
strabismus
astigmatism
hypermetropia

Head And Neck Mouth:
drooling
oromotor hypotonia

Skeletal Limbs:
limb contractures

Clinical features from OMIM®:

619328 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 22

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 22

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Genetic Tests for Leukodystrophy, Hypomyelinating, 22

Genetic tests related to Leukodystrophy, Hypomyelinating, 22:

#	Genetic test	Affiliating Genes
1	Leukodystrophy, Hypomyelinating, 22 ²⁸	CLDN11

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Anatomical Context for Leukodystrophy, Hypomyelinating, 22

Organs/tissues related to Leukodystrophy, Hypomyelinating, 22:

MalaCards : Brain, Eye, Cerebellum

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Publications for Leukodystrophy, Hypomyelinating, 22

Articles related to Leukodystrophy, Hypomyelinating, 22:

#	Title	Authors	PMID	Year
1	De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. ⁵⁷ ⁵	Riedhammer KM...Vill K	33313762	2021
2	CNS myelin and sertoli cell tight junction strands are absent in Osp/claudin-11 null mice. ⁵⁷	Gow A...Lazzarini RA	10612400	1999

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Genes for Leukodystrophy, Hypomyelinating, 22

Genes related to Leukodystrophy, Hypomyelinating, 22 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CLDN11	Claudin 11	Protein Coding	1007.88	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	33313762

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Variations for Leukodystrophy, Hypomyelinating, 22

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 22:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CLDN11	NM_005602.6(CLDN11):c.622T>C (p.Ter208Gln)	SNV	Pathogenic	1106668		GRCh37: 3:170150542-170150542 GRCh38: 3:170432754-170432754
2	CLDN11	NM_005602.6(CLDN11):c.622T>G (p.Ter208Glu)	SNV	Pathogenic	1106670		GRCh37: 3:170150542-170150542 GRCh38: 3:170432754-170432754

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Expression for Leukodystrophy, Hypomyelinating, 22

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 22.

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Pathways for Leukodystrophy, Hypomyelinating, 22

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GO Terms for Leukodystrophy, Hypomyelinating, 22

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Sources for Leukodystrophy, Hypomyelinating, 22

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⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁷⁵ Wikipedia

HLD22 MCID: LKD035 MIFTS: 23	Leukodystrophy, Hypomyelinating, 22 (HLD22) 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 Publications Symptoms & Phenotypes Expand all tables

Leukodystrophy, Hypomyelinating, 22 (HLD22)

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 22

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 22:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Leukodystrophy, Hypomyelinating, 22

Related Diseases for Leukodystrophy, Hypomyelinating, 22

Diseases in the Hypomyelinating Leukodystrophy family:

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 22

Human phenotypes related to Leukodystrophy, Hypomyelinating, 22:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 22

Genetic Tests for Leukodystrophy, Hypomyelinating, 22

Genetic tests related to Leukodystrophy, Hypomyelinating, 22:

Anatomical Context for Leukodystrophy, Hypomyelinating, 22

Organs/tissues related to Leukodystrophy, Hypomyelinating, 22:

Publications for Leukodystrophy, Hypomyelinating, 22

Articles related to Leukodystrophy, Hypomyelinating, 22:

Genes for Leukodystrophy, Hypomyelinating, 22

Genes related to Leukodystrophy, Hypomyelinating, 22 (1 elite genes):

Variations for Leukodystrophy, Hypomyelinating, 22

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 22:

Expression for Leukodystrophy, Hypomyelinating, 22

Pathways for Leukodystrophy, Hypomyelinating, 22

GO Terms for Leukodystrophy, Hypomyelinating, 22

Sources for Leukodystrophy, Hypomyelinating, 22