ISDNA
MCID: IMM146
MIFTS: 23

Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities (ISDNA)

Categories: Genetic diseases, Immune diseases, Neuronal diseases

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:



External Ids:

OMIM 57 617425

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

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:

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

Drugs & Therapeutics for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

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

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

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

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
28148688 2017
2
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. 8 71
28132690 2017
3
Death from uveal melanoma. Number of epithelioid cells and inverse SD of nucleolar area as prognostic factors. 38
3579712 1987
4
Metastatic uveal melanoma. Correlation between survival time and cytomorphometry of primary tumors. 38
3942548 1986

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

Expression for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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