MCID: SHR102
MIFTS: 39

Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures

Categories: Genetic diseases, Neuronal diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Short Stature, Brachydactyly, Intellectual Developmental...

MalaCards integrated aliases for Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures:

Name: Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 54 71 29
Bone Diseases 42 69
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome 56
Sbidds 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable dysmorphic features


Classifications:



External Ids:

OMIM 54 617157
Orphanet 56 ORPHA464288
MedGen 40 CN238697
ICD10 33 M89 M89.8

Summaries for Short Stature, Brachydactyly, Intellectual Developmental...

UniProtKB/Swiss-Prot : 71 Short stature, brachydactyly, intellectual developmental disability, and seizures: An autosomal recessive disease characterized by developmental delay, learning disabilities, mild mental retardation, delayed speech, and skeletal abnormalities. Skeletal features include short stature, brachydactyly, and short metacarpals and metatarsals.

MalaCards based summary : Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures, also known as bone diseases, is related to paget disease of bone 2, early-onset and hyperparathyroidism, familial primary, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures is PRMT7 (Protein Arginine Methyltransferase 7), and among its related pathways/superpathways are Cytokine Signaling in Immune system and RANK Signaling in Osteoclasts. Affiliated tissues include bone and eye, and related phenotypes are growth/size/body region and hematopoietic system

Description from OMIM: 617157

Related Diseases for Short Stature, Brachydactyly, Intellectual Developmental...

Diseases related to Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 207)
id Related Disease Score Top Affiliating Genes
1 paget disease of bone 2, early-onset 30.5 TNFRSF11A TNFRSF11B TNFSF11
2 hyperparathyroidism, familial primary 29.9 BGLAP FGF23
3 caffey disease 29.0 BGLAP CD36 TNFRSF11B
4 intrahepatic cholestasis 28.9 TNFRSF11A TNFSF11
5 ischemic bone disease 12.0
6 polycystic bone disease 11.8
7 osteogenesis imperfecta 11.6
8 osteopetrosis 11.4
9 gorham's disease 11.2
10 paget disease of bone 5, juvenile-onset 11.1
11 osteitis fibrosa 11.1
12 paget's disease of bone 11.1
13 col1a1/2-related osteogenesis imperfecta 10.8
14 renal osteodystrophy 10.7
15 osteonecrosis 10.7
16 hypophosphatasia 10.7
17 osteonecrosis of the jaw 10.7
18 alkaptonuria 10.7
19 dysbaric osteonecrosis 10.7
20 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 10.6
21 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 10.6
22 acrocapitofemoral dysplasia 10.6
23 cystic angiomatosis of bone, diffuse 10.6
24 cortical blindness 10.4 TNFRSF11B TNFSF11
25 peripheral scars of retina 10.4 TNFRSF11B TNFSF11
26 familial mediterranean fever, ar 10.4 BGLAP TNFSF11
27 spondyloepimetaphyseal dysplasia, aggrecan type 10.3
28 bone inflammation disease 10.3
29 spondyloepimetaphyseal dysplasia with joint laxity, type 2 10.3
30 ischiocoxopodopatellar syndrome 10.3
31 crystal arthropathies 10.3
32 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 10.3
33 spondyloepimetaphyseal dysplasia 10.3
34 multiple synostoses syndrome 1 10.3
35 cole-carpenter syndrome 10.3
36 bone remodeling disease 10.3
37 hypophosphatasia, infantile 10.3
38 spondyloepimetaphyseal dysplasia, missouri type 10.3
39 multiple synostoses syndrome 2 10.3
40 bone development disease 10.3
41 hypophosphatasia, childhood 10.3
42 opsismodysplasia 10.3
43 hypophosphatasia, adult 10.3
44 hypophosphatemic rickets, autosomal dominant 10.3
45 osteochondritis dissecans 10.3
46 bone structure disease 10.3
47 smed strudwick type 10.3
48 spondyloepimetaphyseal dysplasia, x-linked 10.3
49 osteochondrosis 10.3
50 spondylometaphyseal dysplasia, kozlowski type 10.3

Graphical network of the top 20 diseases related to Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures:



Diseases related to Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures

Symptoms & Phenotypes for Short Stature, Brachydactyly, Intellectual Developmental...

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Muscle Soft Tissue:
hypotonia

Skeletal- Hands:
brachydactyly
short metacarpals
webbing of the fingers

Head And Neck- Eyes:
strabismus
epicanthal folds
short palpebral fissures
deep-set eyes
astigmatism
more
Head And Neck- Face:
retrognathia
long philtrum
malar hypoplasia
square chin

Growth- Weight:
obesity

Endocrine Features:
pseudohypoparathyroidism (in 1 family)

Head And Neck- Mouth:
high-arched palate
thin lips

Head And Neck- Nose:
anteverted nostrils
depressed nasal bridge
broad nasal root
broad nasal tip
wide nasal bridge

Neurologic- Central Nervous System:
delayed psychomotor development
learning disabilities
intellectual disability
delayed walking
delayed myelination
more
Head And Neck- Head:
microcephaly
frontal bossing

Head And Neck- Neck:
short neck

Skeletal- Feet:
short metatarsals


Clinical features from OMIM:

617157

UMLS symptoms related to Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures:


back pain, muscle cramp, sciatica

MGI Mouse Phenotypes related to Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.87 CD36 FGF23 OSTM1 PRMT7 TNFRSF11A TNFRSF11B
2 hematopoietic system MP:0005397 9.8 CD36 FGF23 OSTM1 PRMT7 TNFRSF11A TNFRSF11B
3 immune system MP:0005387 9.63 TNFRSF11A TNFRSF11B TNFSF11 CD36 FGF23 OSTM1
4 limbs/digits/tail MP:0005371 9.35 FGF23 OSTM1 TNFRSF11A TNFRSF11B TNFSF11
5 skeleton MP:0005390 9.17 FGF23 OSTM1 PRMT7 TNFRSF11A TNFRSF11B TNFSF11

Drugs & Therapeutics for Short Stature, Brachydactyly, Intellectual Developmental...

Search Clinical Trials , NIH Clinical Center for Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: bone diseases

Genetic Tests for Short Stature, Brachydactyly, Intellectual Developmental...

Genetic tests related to Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures:

id Genetic test Affiliating Genes
1 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 29

Anatomical Context for Short Stature, Brachydactyly, Intellectual Developmental...

MalaCards organs/tissues related to Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures:

39
Bone, Eye

Publications for Short Stature, Brachydactyly, Intellectual Developmental...

Variations for Short Stature, Brachydactyly, Intellectual Developmental...

UniProtKB/Swiss-Prot genetic disease variations for Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures:

71
id Symbol AA change Variation ID SNP ID
1 PRMT7 p.Arg32Thr VAR_076329 rs149170494
2 PRMT7 p.Arg387Gly VAR_076330 rs762515973
3 PRMT7 p.Trp494Arg VAR_076331 rs751670999

ClinVar genetic disease variations for Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PRMT7 NM_019023.2(PRMT7): c.1276-1G> A single nucleotide variant Pathogenic rs886039897 GRCh38 Chromosome 16, 68347630: 68347630
2 PRMT7 NM_019023.2(PRMT7): c.1480T> C (p.Trp494Arg) single nucleotide variant Pathogenic rs751670999 GRCh38 Chromosome 16, 68352314: 68352314
3 PRMT7 NM_019023.2(PRMT7): c.95G> C (p.Arg32Thr) single nucleotide variant Pathogenic rs149170494 GRCh38 Chromosome 16, 68316074: 68316074
4 PRMT7 NM_019023.2(PRMT7): c.1159A> G (p.Arg387Gly) single nucleotide variant Pathogenic rs762515973 GRCh38 Chromosome 16, 68346248: 68346248
5 PRMT7 NM_019023.2(PRMT7): c.1056-1G> T single nucleotide variant Pathogenic rs201824659 GRCh38 Chromosome 16, 68346144: 68346144
6 PRMT7 PRMT7, 15,309-BP DEL deletion Pathogenic

Expression for Short Stature, Brachydactyly, Intellectual Developmental...

Search GEO for disease gene expression data for Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures.

Pathways for Short Stature, Brachydactyly, Intellectual Developmental...

GO Terms for Short Stature, Brachydactyly, Intellectual Developmental...

Cellular components related to Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.02 BGLAP CD36 FGF23 TNFRSF11B TNFSF11

Biological processes related to Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 9.61 TNFRSF11A TNFRSF11B TNFSF11
2 apoptotic signaling pathway GO:0097190 9.56 TNFRSF11A TNFRSF11B
3 response to estrogen GO:0043627 9.55 BGLAP TNFRSF11B
4 monocyte chemotaxis GO:0002548 9.54 TNFRSF11A TNFSF11
5 regulation of bone mineralization GO:0030500 9.52 BGLAP FGF23
6 mammary gland alveolus development GO:0060749 9.51 TNFRSF11A TNFSF11
7 ossification GO:0001503 9.5 BGLAP TNFRSF11A TNFSF11
8 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.49 TNFRSF11A TNFSF11
9 response to inorganic substance GO:0010035 9.48 BGLAP TNFRSF11B
10 regulation of osteoclast differentiation GO:0045670 9.46 BGLAP TNFSF11
11 response to magnesium ion GO:0032026 9.4 FGF23 TNFRSF11B
12 cellular response to vitamin D GO:0071305 9.37 BGLAP FGF23
13 TNFSF11-mediated signaling pathway GO:0071847 9.26 TNFRSF11A TNFSF11
14 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.16 TNFRSF11A TNFSF11
15 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 8.96 TNFRSF11A TNFSF11
16 osteoclast differentiation GO:0030316 8.8 OSTM1 TNFRSF11A TNFSF11

Molecular functions related to Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-activated receptor activity GO:0005031 8.62 TNFRSF11A TNFRSF11B

Sources for Short Stature, Brachydactyly, Intellectual Developmental...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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