Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ISDNA MCID: IMM146 MIFTS: 25	Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities (ISDNA) Categories: Bone diseases, Genetic diseases, Immune diseases, Neuronal diseases
Genes Variations Tissues Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

MalaCards integrated aliases for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

Name: Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities ⁵⁷ ⁷³ ³⁶ ²⁹ ⁶

Isdna ⁵⁷ ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
may result in death in neonatal period
variable skeletal and immune features present

HPO:

³¹

immunoskeletal dysplasia with neurodevelopmental abnormalities:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Bone diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 617425

KEGG ³⁶ H02491

MeSH ⁴⁴ D010009 D065886

MedGen ⁴¹ C4479452 CN241841

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Summaries for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

UniProtKB/Swiss-Prot : ⁷³ Immunoskeletal dysplasia with neurodevelopmental abnormalities: An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients.

MalaCards based summary : Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities, is also known as isdna. An important gene associated with Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities is EXTL3 (Exostosin Like Glycosyltransferase 3), and among its related pathways/superpathways is Glycosaminoglycan biosynthesis - heparan sulfate / heparin. Affiliated tissues include t cells and liver, and related phenotypes are hypertelorism and anal atresia

KEGG : ³⁶ Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is an autosomal recessive syndrome caused by mutations in EXTL3. ISDNA is characterized by severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. EXTL3 encodes a glycosyltransferase involved in heparan sulfate biosynthesis.

More information from OMIM: 617425

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Related Diseases for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

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Symptoms & Phenotypes for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Human phenotypes related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

³¹ (show all 32)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³¹	occasional (7.5%)	HP:0000316
2	anal atresia ³¹	occasional (7.5%)	HP:0002023
3	erythroderma ³¹	occasional (7.5%)	HP:0001019
4	muscular hypotonia of the trunk ³¹	occasional (7.5%)	HP:0008936
5	progressive microcephaly ³¹	occasional (7.5%)	HP:0000253
6	hepatic cysts ³¹	occasional (7.5%)	HP:0001407
7	cervical instability ³¹	occasional (7.5%)	HP:0008462
8	seizure ³¹	occasional (7.5%)	HP:0001250
9	pectus excavatum ³¹	very rare (1%)	HP:0000767
10	intellectual disability ³¹		HP:0001249
11	coarse facial features ³¹		HP:0000280
12	depressed nasal bridge ³¹		HP:0005280
13	full cheeks ³¹		HP:0000293
14	epiphyseal dysplasia ³¹		HP:0002656
15	motor delay ³¹		HP:0001270
16	kyphoscoliosis ³¹		HP:0002751
17	lymphopenia ³¹		HP:0001888
18	brachydactyly ³¹		HP:0001156
19	platyspondyly ³¹		HP:0000926
20	coxa valga ³¹		HP:0002673
21	eosinophilia ³¹		HP:0001880
22	single transverse palmar crease ³¹		HP:0000954
23	recurrent infections ³¹		HP:0002719
24	disproportionate short stature ³¹		HP:0003498
25	prominent nose ³¹		HP:0000448
26	dislocated radial head ³¹		HP:0003083
27	broad nasal tip ³¹		HP:0000455
28	metaphyseal dysplasia ³¹		HP:0100255
29	hypoplasia of the capital femoral epiphysis ³¹		HP:0003090
30	delayed ossification of carpal bones ³¹		HP:0001216
31	decreased circulating antibody level ³¹		HP:0004313
32	narrow greater sciatic notch ³¹		HP:0003375

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Nose:
depressed nasal bridge
prominent nose
broad nasal tip

Skeletal Limbs:
epiphyseal dysplasia
metaphyseal dysplasia
radial head dislocation
small capital femoral epiphyses

Skeletal Hands:
brachydactyly
delayed carpal ossification
lack of ossification of fifth-finger middle phalanx (in some patients)

Immunology:
eosinophilia
hypogammaglobulinemia
frequent infections
extremely low or absent t cells
normal b cell levels
more

Head And Neck Eyes:
hypertelorism (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (in some patients)
rib deformity (in some patients)

Abdomen Gastrointestinal:
anal atresia (rare)

Abdomen Liver:
liver cysts (in some patients)

Muscle Soft Tissue:
truncal hypotonia (in some patients)
hypertonia in limbs (in some patients)

Head And Neck Face:
full cheeks
coarse facies

Neurologic Central Nervous System:
motor delay
seizures (in some patients)
intellectual disability, mild to severe
truncal muscular hypotonia (in some patients)
hypertonia of limbs (in some patients)

Skeletal Pelvis:
coxa valga
narrow sciatic notches
sloping acetabular roof
trident-shaped acetabula
shallow lateral notches

Growth Height:
short stature, disproportionate

Skin Nails Hair Skin:
single palmar crease
erythroderma (in some patients)
abnormal palmar crease (rare)

Skeletal Spine:
platyspondyly, severe
kyphoscoliosis, progressive
cervical spine malformation
cervical instability (in some patients)
hypoplastic odontoid peg

Respiratory Airways:
severe narrowing of laryngotracheal tract (rare)

Skeletal Skull:
premature craniosynostosis (rare)
microcephaly, progressive (rare)

Clinical features from OMIM®:

617425 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Search Clinical Trials , NIH Clinical Center for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

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Genetic Tests for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Genetic tests related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

#	Genetic test	Affiliating Genes
1	Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities ²⁹	EXTL3

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Anatomical Context for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

MalaCards organs/tissues related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

⁴⁰

T Cells, Liver

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Publications for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Articles related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

#	Title	Authors	PMID	Year
1	EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. ⁶ ⁵⁷	Volpi S...Notarangelo LD	28148688	2017
2	Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. ⁶ ⁵⁷	Oud MM...Kuijpers TW	28132690	2017
3	Death from uveal melanoma. Number of epithelioid cells and inverse SD of nucleolar area as prognostic factors. ⁶¹	Seddon JM...Gragoudas ES	3579712	1987
4	Metastatic uveal melanoma. Correlation between survival time and cytomorphometry of primary tumors. ⁶¹	Donoso LA...Gamel J	3942548	1986

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Genes for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Genes related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	EXTL3	Exostosin Like Glycosyltransferase 3	Protein Coding	1343.31	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	28132690 28148688

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Variations for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

ClinVar genetic disease variations for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	EXTL3	NM_001440.4(EXTL3):c.1382C>T (p.Pro461Leu)	SNV	Pathogenic	417794	rs554294508	8:28574958-28574958	8:28717441-28717441
2	EXTL3	NM_001440.4(EXTL3):c.1970A>G (p.Asn657Ser)	SNV	Pathogenic	417795	rs770842408	8:28575546-28575546	8:28718029-28718029
3	EXTL3	NM_001440.4(EXTL3):c.1015C>T (p.Arg339Trp)	SNV	Pathogenic	417796	rs747676107	8:28574591-28574591	8:28717074-28717074
4	EXTL3	NM_001440.4(EXTL3):c.953C>T (p.Pro318Leu)	SNV	Likely pathogenic	623480	rs749621890	8:28574529-28574529	8:28717012-28717012

UniProtKB/Swiss-Prot genetic disease variations for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	EXTL3	p.Arg339Trp	VAR_079089	rs747676107
2	EXTL3	p.Pro461Leu	VAR_079091	rs554294508
3	EXTL3	p.Arg513Cys	VAR_079092	rs133200614
4	EXTL3	p.Asn657Ser	VAR_079093	rs770842408
5	EXTL3	p.Tyr670Asp	VAR_079094

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Expression for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Search GEO for disease gene expression data for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities.

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Pathways for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Pathways related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Glycosaminoglycan biosynthesis - heparan sulfate / heparin	hsa00534

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GO Terms for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

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Sources for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

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

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¹⁶ DrugBank

¹⁷ EFO

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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

Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities (ISDNA)

Aliases & Classifications for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

MalaCards integrated aliases for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Related Diseases for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Symptoms & Phenotypes for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Human phenotypes related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Genetic Tests for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Genetic tests related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

Anatomical Context for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

MalaCards organs/tissues related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

Publications for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Articles related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

Genes for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Genes related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities (1 elite genes):

Variations for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

ClinVar genetic disease variations for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

UniProtKB/Swiss-Prot genetic disease variations for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

Expression for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Pathways for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Pathways related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities according to KEGG:

GO Terms for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Sources for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities