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

ISDNA MCID: IMM146 MIFTS: 23	Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities (ISDNA) Categories: Genetic diseases, Immune diseases, Neuronal diseases
Genes Variations Tissues Publications 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 ⁷⁴ ²⁹ ⁶

Isdna ⁵⁷ ⁷⁴

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

immunoskeletal dysplasia with neurodevelopmental abnormalities:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617425

MeSH ⁴⁴ D010009 D065886

MedGen ⁴² C4479452 CN241841

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Summaries for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

UniProtKB/Swiss-Prot : ⁷⁴ 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). Affiliated tissues include t cells, liver and bone, and related phenotypes are hypertelorism and seizures

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:

³² (show all 32)

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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

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)

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

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

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

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

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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:

⁴¹

T Cells, Liver, Bone, B Cells

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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. ⁸ ⁷¹	Volpi S...Notarangelo LD	28148688	2017
2	Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. ⁸ ⁷¹	Oud MM...Kuijpers TW	28132690	2017
3	Death from uveal melanoma. Number of epithelioid cells and inverse SD of nucleolar area as prognostic factors. ³⁸	Seddon JM...Gragoudas ES	3579712	1987
4	Metastatic uveal melanoma. Correlation between survival time and cytomorphometry of primary tumors. ³⁸	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	PubmedIds
1	EXTL3	Exostosin Like Glycosyltransferase 3	Protein Coding	1328.49	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	28148688 28132690

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Variations for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

ClinVar genetic disease variations for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	EXTL3	NM_001440.4(EXTL3): c.1382C> T (p.Pro461Leu)	single nucleotide variant	Pathogenic	rs554294508	8:28574958-28574958	8:28717441-28717441
2	EXTL3	NM_001440.4(EXTL3): c.1970A> G (p.Asn657Ser)	single nucleotide variant	Pathogenic	rs770842408	8:28575546-28575546	8:28718029-28718029
3	EXTL3	NM_001440.4(EXTL3): c.1015C> T (p.Arg339Trp)	single nucleotide variant	Pathogenic	rs747676107	8:28574591-28574591	8:28717074-28717074
4	EXTL3	NM_001440.4(EXTL3): c.953C> T (p.Pro318Leu)	single nucleotide variant	Likely pathogenic	rs749621890	8:28574529-28574529	8:28717012-28717012

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

⁷⁴

#	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

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GO Terms for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

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Sources for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

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⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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

GO Terms for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Sources for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities