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 58 76 30 6
Isdna 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
immunoskeletal dysplasia with neurodevelopmental abnormalities:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

UniProtKB/Swiss-Prot : 76 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

Description 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:

33 (show all 32)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 occasional (7.5%) HP:0000316
2 seizures 33 occasional (7.5%) HP:0001250
3 hepatic cysts 33 occasional (7.5%) HP:0001407
4 anal atresia 33 occasional (7.5%) HP:0002023
5 erythroderma 33 occasional (7.5%) HP:0001019
6 muscular hypotonia of the trunk 33 occasional (7.5%) HP:0008936
7 progressive microcephaly 33 occasional (7.5%) HP:0000253
8 cervical instability 33 occasional (7.5%) HP:0008462
9 pectus excavatum 33 very rare (1%) HP:0000767
10 intellectual disability 33 HP:0001249
11 coarse facial features 33 HP:0000280
12 depressed nasal bridge 33 HP:0005280
13 full cheeks 33 HP:0000293
14 epiphyseal dysplasia 33 HP:0002656
15 platyspondyly 33 HP:0000926
16 coxa valga 33 HP:0002673
17 decreased antibody level in blood 33 HP:0004313
18 motor delay 33 HP:0001270
19 kyphoscoliosis 33 HP:0002751
20 lymphopenia 33 HP:0001888
21 brachydactyly 33 HP:0001156
22 broad nasal tip 33 HP:0000455
23 recurrent infections 33 HP:0002719
24 prominent nose 33 HP:0000448
25 eosinophilia 33 HP:0001880
26 single transverse palmar crease 33 HP:0000954
27 disproportionate short stature 33 HP:0003498
28 dislocated radial head 33 HP:0003083
29 metaphyseal dysplasia 33 HP:0100255
30 delayed ossification of carpal bones 33 HP:0001216
31 hypoplasia of the capital femoral epiphysis 33 HP:0003090
32 narrow greater sacrosciatic notches 33 HP:0003375

Symptoms via clinical synopsis from OMIM:

58
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 30 EXTL3

Anatomical Context for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

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

42
T Cells, Liver, Bone, B Cells

Publications for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Articles related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

# Title Authors Year
1
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. ( 28132690 )
2017
2
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. ( 28148688 )
2017

Variations for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

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

76
# 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

ClinVar genetic disease variations for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EXTL3 NM_001440.3(EXTL3): c.1382C> T (p.Pro461Leu) single nucleotide variant Pathogenic rs554294508 GRCh37 Chromosome 8, 28574958: 28574958
2 EXTL3 NM_001440.3(EXTL3): c.1382C> T (p.Pro461Leu) single nucleotide variant Pathogenic rs554294508 GRCh38 Chromosome 8, 28717441: 28717441
3 EXTL3 NM_001440.3(EXTL3): c.1970A> G (p.Asn657Ser) single nucleotide variant Pathogenic rs770842408 GRCh37 Chromosome 8, 28575546: 28575546
4 EXTL3 NM_001440.3(EXTL3): c.1970A> G (p.Asn657Ser) single nucleotide variant Pathogenic rs770842408 GRCh38 Chromosome 8, 28718029: 28718029
5 EXTL3 NM_001440.3(EXTL3): c.1015C> T (p.Arg339Trp) single nucleotide variant Pathogenic rs747676107 GRCh38 Chromosome 8, 28717074: 28717074
6 EXTL3 NM_001440.3(EXTL3): c.1015C> T (p.Arg339Trp) single nucleotide variant Pathogenic rs747676107 GRCh37 Chromosome 8, 28574591: 28574591
7 EXTL3 NM_001440.3(EXTL3): c.953C> T (p.Pro318Leu) single nucleotide variant Likely pathogenic rs749621890 GRCh38 Chromosome 8, 28717012: 28717012
8 EXTL3 NM_001440.3(EXTL3): c.953C> T (p.Pro318Leu) single nucleotide variant Likely pathogenic rs749621890 GRCh37 Chromosome 8, 28574529: 28574529

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
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70 SNOMED-CT via HPO
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72 TGDB
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74 UMLS
75 UMLS via Orphanet
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