ISDNA
MCID: IMM146
MIFTS: 25

Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities (ISDNA)

Categories: Bone diseases, 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 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:



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

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:

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)

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:

40
T Cells, Liver

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
28148688 2017
2
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. 6 57
28132690 2017
3
Death from uveal melanoma. Number of epithelioid cells and inverse SD of nucleolar area as prognostic factors. 61
3579712 1987
4
Metastatic uveal melanoma. Correlation between survival time and cytomorphometry of primary tumors. 61
3942548 1986

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

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

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

36
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - heparan sulfate / heparin hsa00534

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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