MCID: IMM146
MIFTS: 22

Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Categories: Genetic diseases, Neuronal diseases, Immune 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 75 29 6
Isdna 57 75

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:



Summaries for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

UniProtKB/Swiss-Prot : 75 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, b cells and liver, and related phenotypes are progressive microcephaly and coarse facial features

Description from OMIM: 617425

Related Diseases for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Symptoms & Phenotypes for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

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

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

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

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)

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

Human phenotypes related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:

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

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, B Cells, Liver, Bone

Publications for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

Variations for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities

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

75
# Symbol AA change Variation ID SNP ID
1 EXTL3 p.Arg339Trp VAR_079089
2 EXTL3 p.Pro461Leu VAR_079091 rs554294508
3 EXTL3 p.Arg513Cys VAR_079092
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

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

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