MCID: SHR102
MIFTS: 22

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 57 75 29 6
Sbidds 57 75
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable dysmorphic features


HPO:

32
short stature, brachydactyly, intellectual developmental disability, and seizures:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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, is also known as sbidds. An important gene associated with Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures is PRMT7 (Protein Arginine Methyltransferase 7). Affiliated tissues include eye and bone, and related phenotypes are high palate and thin vermilion border

Description from OMIM: 617157

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Head And Neck Head:
frontal bossing
microcephaly

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

Head And Neck Face:
long philtrum
retrognathia
malar hypoplasia
square chin

Skeletal Hands:
brachydactyly
short metacarpals
webbing of the fingers

Head And Neck Mouth:
high-arched palate
thin lips

Endocrine Features:
pseudohypoparathyroidism (in 1 family)

Growth Weight:
obesity

Neurologic Central Nervous System:
intellectual disability
delayed myelination
delayed psychomotor development
learning disabilities
delayed walking
more
Growth Height:
short stature

Head And Neck Eyes:
strabismus
astigmatism
epicanthal folds
deep-set eyes
short palpebral fissures
more
Muscle Soft Tissue:
hypotonia

Skeletal Feet:
short metatarsals


Clinical features from OMIM:

617157

Human phenotypes related to Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 thin vermilion border 32 HP:0000233
3 microcephaly 32 HP:0000252
4 malar flattening 32 HP:0000272
5 retrognathia 32 HP:0000278
6 epicanthus 32 HP:0000286
7 long philtrum 32 HP:0000343
8 wide nasal bridge 32 HP:0000431
9 broad nasal tip 32 HP:0000455
10 short neck 32 HP:0000470
11 astigmatism 32 HP:0000483
12 strabismus 32 HP:0000486
13 deeply set eye 32 HP:0000490
14 delayed speech and language development 32 HP:0000750
15 pseudohypoparathyroidism 32 HP:0000852
16 brachydactyly 32 HP:0001156
17 intellectual disability 32 HP:0001249
18 seizures 32 HP:0001250
19 global developmental delay 32 HP:0001263
20 generalized hypotonia 32 HP:0001290
21 obesity 32 HP:0001513
22 frontal bossing 32 HP:0002007
23 short stature 32 HP:0004322
24 depressed nasal bridge 32 HP:0005280
25 underdeveloped supraorbital ridges 32 HP:0009891
26 short metacarpal 32 HP:0010049
27 short metatarsal 32 HP:0010743
28 delayed myelination 32 HP:0012448
29 short palpebral fissure 32 HP:0012745

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

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

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

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

# Genetic test Affiliating Genes
1 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 29 PRMT7

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

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

41
Eye, Bone

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:

75
# 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
(show all 11)
# 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.1276-1G> A single nucleotide variant Pathogenic rs886039897 GRCh37 Chromosome 16, 68381533: 68381533
3 PRMT7 NM_019023.2(PRMT7): c.1480T> C (p.Trp494Arg) single nucleotide variant Pathogenic rs751670999 GRCh38 Chromosome 16, 68352314: 68352314
4 PRMT7 NM_019023.2(PRMT7): c.1480T> C (p.Trp494Arg) single nucleotide variant Pathogenic rs751670999 GRCh37 Chromosome 16, 68386217: 68386217
5 PRMT7 NM_019023.2(PRMT7): c.95G> C (p.Arg32Thr) single nucleotide variant Pathogenic rs149170494 GRCh37 Chromosome 16, 68349977: 68349977
6 PRMT7 NM_019023.2(PRMT7): c.95G> C (p.Arg32Thr) single nucleotide variant Pathogenic rs149170494 GRCh38 Chromosome 16, 68316074: 68316074
7 PRMT7 NM_019023.2(PRMT7): c.1159A> G (p.Arg387Gly) single nucleotide variant Pathogenic rs762515973 GRCh38 Chromosome 16, 68346248: 68346248
8 PRMT7 NM_019023.2(PRMT7): c.1159A> G (p.Arg387Gly) single nucleotide variant Pathogenic rs762515973 GRCh37 Chromosome 16, 68380151: 68380151
9 PRMT7 NM_019023.2(PRMT7): c.1056-1G> T single nucleotide variant Pathogenic rs201824659 GRCh38 Chromosome 16, 68346144: 68346144
10 PRMT7 NM_019023.2(PRMT7): c.1056-1G> T single nucleotide variant Pathogenic rs201824659 GRCh37 Chromosome 16, 68380047: 68380047
11 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...

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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