Opsismodysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

OPSMD MCID: OPS002 MIFTS: 38	Opsismodysplasia (OPSMD) Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Opsismodysplasia

MalaCards integrated aliases for Opsismodysplasia:

Name: Opsismodysplasia ⁵⁸ ⁷⁷ ⁵⁴ ⁶⁰ ⁷⁶ ³⁸ ³⁰ ¹³ ⁶ ⁴¹ ⁷⁴

Opsmd ⁵⁸ ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

opsismodysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
may result in death in neonatal period or early childhood

HPO:

³³

opsismodysplasia:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Other specified osteochondrodysplasias

Orphanet: ⁶⁰

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 258480

KEGG ³⁸ H01828

MeSH ⁴⁵ D010009

MESH via Orphanet ⁴⁶ C537122

ICD10 via Orphanet ³⁵ Q78.8

UMLS via Orphanet ⁷⁵ C0432219

Orphanet ⁶⁰ ORPHA2746

MedGen ⁴³ C0432219

UMLS ⁷⁴ C0432219

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Summaries for Opsismodysplasia

OMIM : ⁵⁸ Opsismodysplasia is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death in utero or secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges (summary by Below et al., 2013 and Fradet and Fitzgerald, 2017). (258480)

MalaCards based summary : Opsismodysplasia, also known as opsmd, is related to rickets and hypophosphatemic rickets, x-linked recessive. An important gene associated with Opsismodysplasia is INPPL1 (Inositol Polyphosphate Phosphatase Like 1). Affiliated tissues include bone, and related phenotypes are macrocephaly and frontal bossing

NIH Rare Diseases : ⁵⁴ Opsismodysplasia is a rare skeletal dysplasia characterized by congenitalshort stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Children with opsismodysplasia are at an increased risk for respiratory infections and respiratory failure. This condition is caused by mutations in the INPPL1 the gene. It is inherited in an autosomal recessive manner.

UniProtKB/Swiss-Prot : ⁷⁶ Opsismodysplasia: A rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with very delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges.

Wikipedia : ⁷⁷ Opsismodysplasia is a type of skeletal dysplasia (a bone disease that interferes with bone development)... more...

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Related Diseases for Opsismodysplasia

Diseases related to Opsismodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)

#	Related Disease	Score	Top Affiliating Genes
1	rickets	29.9	FGF23 PHEX
2	hypophosphatemic rickets, x-linked recessive	29.8	FGF23 PHEX
3	hydrocephalus	10.1
4	frank-ter haar syndrome	10.0	INPPL1 SH3PXD2B
5	enthesopathy	9.9	FGF23 PHEX
6	oncogenic osteomalacia	9.9	FGF23 PHEX
7	osteomalacia	9.9	FGF23 PHEX
8	hypophosphatemic rickets, x-linked dominant	9.8	FGF23 PHEX
9	familial tumoral calcinosis	9.8	FGF23 PHEX
10	calcinosis	9.8	FGF23 PHEX
11	autosomal recessive hypophosphatemic rickets	9.8	FGF23 PHEX
12	hypophosphatemic rickets, autosomal dominant	9.8	FGF23 PHEX
13	arterial calcification of infancy	9.8	FGF23 PHEX
14	phosphorus metabolism disease	9.8	FGF23 PHEX
15	hypophosphatemic rickets with hypercalciuria, hereditary	9.8	FGF23 PHEX
16	mineral metabolism disease	9.7	FGF23 PHEX
17	hyperphosphatemia	9.7	FGF23 PHEX
18	bone remodeling disease	9.7	FGF23 PHEX
19	hypophosphatemia	9.6	FGF23 PHEX
20	hyperparathyroidism	9.5	FGF23 PHEX

Graphical network of the top 20 diseases related to Opsismodysplasia:

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Symptoms & Phenotypes for Opsismodysplasia

Human phenotypes related to Opsismodysplasia:

⁶⁰ ³³ (show all 49)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	macrocephaly ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000256
2	frontal bossing ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002007
3	abnormality of epiphysis morphology ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0005930
4	respiratory insufficiency ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002093
5	delayed skeletal maturation ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002750
6	depressed nasal bridge ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0005280
7	short nose ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003196
8	abnormality of the metaphysis ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000944
9	brachydactyly ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001156
10	severe short stature ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003510
11	large fontanelles ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000239
12	tapered finger ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001182
13	hypoplastic pubic bone ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003173
14	hypoplastic ischia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003175
15	squared iliac bones ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003177
16	hypoplastic vertebral bodies ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008479
17	abnormally ossified vertebrae ³³	hallmark (90%)		HP:0100569
18	muscular hypotonia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001252
19	recurrent respiratory infections ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002205
20	flat occiput ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0005469
21	pectus excavatum ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000767
22	splenomegaly ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001744
23	hepatomegaly ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002240
24	joint stiffness ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001387
25	broad thumb ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0011304
26	narrow chest ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000774
27	blue sclerae ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000592
28	hypophosphatemia ³³	occasional (7.5%)		HP:0002148
29	renal phosphate wasting ³³	occasional (7.5%)		HP:0000117
30	hypertelorism ³³			HP:0000316
31	short neck ³³			HP:0000470
32	anteverted nares ³³			HP:0000463
33	long philtrum ³³			HP:0000343
34	edema ³³			HP:0000969
35	short palm ³³			HP:0004279
36	short long bone ³³			HP:0003026
37	short foot ³³			HP:0001773
38	rhizomelia ³³			HP:0008905
39	polyhydramnios ³³			HP:0001561
40	disproportionate short-limb short stature ³³			HP:0008873
41	flat acetabular roof ³³			HP:0003180
42	abnormal vertebral ossification ⁶⁰		Very frequent (99-80%)
43	generalized hypotonia ³³			HP:0001290
44	bell-shaped thorax ³³			HP:0001591
45	anterior rib cupping ³³			HP:0000907
46	protuberant abdomen ³³			HP:0001538
47	metaphyseal cupping ³³			HP:0003021
48	severe platyspondyly ³³			HP:0004565
49	posterior rib cupping ³³			HP:0000922

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Head:
macrocephaly
large fontanelles

Head And Neck Neck:
short neck
nuchal edema

Head And Neck Nose:
short nose
anteverted nostrils
flattened nasal bridge

Skeletal Pelvis:
hypoplastic ischia
hypoplastic pubis
horizontal acetabular roof
square iliac bones
medial and lateral spurs

Chest External Features:
bell-shaped thorax
narrow thorax

Skeletal Hands:
metaphyseal cupping
short hands
very short tubular bones

Neurologic Central Nervous System:
hypotonia

Abdomen External Features:
prominent abdomen

Respiratory:
susceptibility to respiratory infections

Genitourinary Kidneys:
renal phosphate wasting (in some patients)

Head And Neck Eyes:
hypertelorism

Head And Neck Face:
frontal bossing
long philtrum

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Skull:
hypoplastic vertebral bodies
severe platyspondyly

Skeletal Limbs:
metaphyseal cupping
rhizomelic shortening
very short long bones
marked delay in epiphyseal appearance

Skeletal Feet:
metaphyseal cupping
short feet
very short tubular bones

Skeletal Spine:
severe scoliosis

Growth Height:
dwarfism, identifiable at birth

Chest Ribs Sternum Clavicles And Scapulae:
anterior and posterior rib flaring
rib cupping

Metabolic Features:
hypophosphatemia (in some patients)

Clinical features from OMIM:

258480

MGI Mouse Phenotypes related to Opsismodysplasia:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	9.33	INPPL1 PHEX SH3PXD2B
2	growth/size/body region	MP:0005378	9.26	FGF23 INPPL1 PHEX SH3PXD2B
3	limbs/digits/tail	MP:0005371	8.8	FGF23 PHEX SH3PXD2B

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Drugs & Therapeutics for Opsismodysplasia

Search Clinical Trials , NIH Clinical Center for Opsismodysplasia

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Genetic Tests for Opsismodysplasia

Genetic tests related to Opsismodysplasia:

#	Genetic test	Affiliating Genes
1	Opsismodysplasia ³⁰	INPPL1

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Anatomical Context for Opsismodysplasia

MalaCards organs/tissues related to Opsismodysplasia:

⁴²

Bone

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Publications for Opsismodysplasia

Articles related to Opsismodysplasia:

(show all 19)

#	Title	Authors	Year
1	INPPL1 gene mutations in opsismodysplasia. ( 27708270 )	Fradet A....Fitzgerald J.	2017
2	Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects. ( 28869677 )	Ghosh S....Erneux C.	2017
3	Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia. ( 27233067 )	Feist C....Fitzgerald J.	2016
4	Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy. ( 26157786 )	Khwaja A....White K.K.	2015
5	Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. ( 24953221 )	Li B....Cohn D.H.	2014
6	Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. ( 23273569 )	Huber C....Cormier-Daire V.	2013
7	Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia. ( 23552673 )	Iida A....Ikegawa S.	2013
8	Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. ( 23273567 )	Below J.E....Bamshad M.J.	2013
9	Opsismodysplasia: implications of mutations in the developmental gene INPPL1. ( 23464704 )	Chai E.C....Singaraja R.R.	2013
10	Opsismodysplasia. ( 20422326 )	Lewis L.E....Girisha K.M.	2010
11	Atlanto-axial segmentation defects and os odontoideum in two male siblings with opsismodysplasia. ( 19050869 )	Al Kaissi A....Klaushofer K.	2009
12	Hypophosphatemic rickets in opsismodysplasia. ( 17315533 )	Zeger M.D....Loechner K.J.	2007
13	A further case of opsismodysplasia with hydrocephalus. ( 16473316 )	Ramos F.J....Bueno M.	2006
14	Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases. ( 12624139 )	Cormier-Daire V....Le Merrer M.	2003
15	Five familial cases of opsismodysplasia substantiate the hypothesis of autosomal recessive inheritance. ( 10076884 )	Tyler K....Kunze J.	1999
16	Opsismodysplasia: a case report. ( 9125065 )	Zeman J....Kozlowski K.	1997
17	Opsismodysplasia: another case and literature review. ( 7551158 )	Santos H.G....Saraiva J.M.	1995
18	Additional case of opsismodysplasia supporting autosomal recessive inheritance. ( 8209898 )	Beemer F.A....Kozlowski K.S.	1994
19	Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae. ( 6496568 )	Maroteaux P....Lejarraga H.	1984

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Genes for Opsismodysplasia

Genes related to Opsismodysplasia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	INPPL1	Inositol Polyphosphate Phosphatase Like 1	Protein Coding	1687.13	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Publications Variants (show sections)	23273567 23273569
2	SH3PXD2B	SH3 And PX Domains 2B	Protein Coding	16.85	GeneCards inferred via : Variants (show sections)
3	FGF23	Fibroblast Growth Factor 23	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
4	PHEX	Phosphate Regulating Endopeptidase Homolog X-Linked	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)

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Variations for Opsismodysplasia

UniProtKB/Swiss-Prot genetic disease variations for Opsismodysplasia:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	INPPL1	p.Arg401Trp	VAR_069586	rs397514511
2	INPPL1	p.Pro659Ser	VAR_069587	rs397514510
3	INPPL1	p.Trp688Cys	VAR_069588
4	INPPL1	p.Phe722Ile	VAR_069589	rs397514512

ClinVar genetic disease variations for Opsismodysplasia:

⁶ (show all 36)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	INPPL1	NM_001567.3(INPPL1): c.1976C> T (p.Pro659Leu)	single nucleotide variant	Pathogenic	rs397514508	GRCh37	Chromosome 11, 71944143: 71944143
2	INPPL1	NM_001567.3(INPPL1): c.1976C> T (p.Pro659Leu)	single nucleotide variant	Pathogenic	rs397514508	GRCh38	Chromosome 11, 72233099: 72233099
3	INPPL1	NM_001567.3(INPPL1): c.545C> A (p.Ser182Ter)	single nucleotide variant	Pathogenic	rs397514509	GRCh37	Chromosome 11, 71940160: 71940160
4	INPPL1	NM_001567.3(INPPL1): c.545C> A (p.Ser182Ter)	single nucleotide variant	Pathogenic	rs397514509	GRCh38	Chromosome 11, 72229116: 72229116
5	INPPL1	NM_001567.3(INPPL1): c.768delA (p.Glu258Serfs)	deletion	Pathogenic	rs797044468	GRCh37	Chromosome 11, 71940721: 71940721
6	INPPL1	NM_001567.3(INPPL1): c.768delA (p.Glu258Serfs)	deletion	Pathogenic	rs797044468	GRCh38	Chromosome 11, 72229677: 72229677
7	INPPL1	NM_001567.3(INPPL1): c.2415+1G> A	single nucleotide variant	Pathogenic	rs655423	GRCh37	Chromosome 11, 71945660: 71945660
8	INPPL1	NM_001567.3(INPPL1): c.2415+1G> A	single nucleotide variant	Pathogenic	rs655423	GRCh38	Chromosome 11, 72234616: 72234616
9	INPPL1	NM_001567.3(INPPL1): c.1975C> T (p.Pro659Ser)	single nucleotide variant	Pathogenic	rs397514510	GRCh37	Chromosome 11, 71944142: 71944142
10	INPPL1	NM_001567.3(INPPL1): c.1975C> T (p.Pro659Ser)	single nucleotide variant	Pathogenic	rs397514510	GRCh38	Chromosome 11, 72233098: 72233098
11	INPPL1	NM_001567.3(INPPL1): c.278_282delAGACC (p.Gln93Profs)	deletion	Pathogenic	rs797044469	GRCh37	Chromosome 11, 71939423: 71939427
12	INPPL1	NM_001567.3(INPPL1): c.278_282delAGACC (p.Gln93Profs)	deletion	Pathogenic	rs797044469	GRCh38	Chromosome 11, 72228379: 72228383
13	INPPL1	NM_001567.3(INPPL1): c.1201C> T (p.Arg401Trp)	single nucleotide variant	Pathogenic	rs397514511	GRCh37	Chromosome 11, 71941843: 71941843
14	INPPL1	NM_001567.3(INPPL1): c.1201C> T (p.Arg401Trp)	single nucleotide variant	Pathogenic	rs397514511	GRCh38	Chromosome 11, 72230799: 72230799
15	INPPL1	NM_001567.3(INPPL1): c.2164T> A (p.Phe722Ile)	single nucleotide variant	Pathogenic	rs397514512	GRCh37	Chromosome 11, 71944740: 71944740
16	INPPL1	NM_001567.3(INPPL1): c.2164T> A (p.Phe722Ile)	single nucleotide variant	Pathogenic	rs397514512	GRCh38	Chromosome 11, 72233696: 72233696
17	INPPL1	NM_001567.3(INPPL1): c.94_121del (p.Glu32Metfs)	deletion	Pathogenic	rs797044470	GRCh37	Chromosome 11, 71936122: 71936149
18	INPPL1	NM_001567.3(INPPL1): c.94_121del (p.Glu32Metfs)	deletion	Pathogenic	rs797044470	GRCh38	Chromosome 11, 72225078: 72225105
19	INPPL1	NM_001567.3(INPPL1): c.2071C> T (p.Arg691Trp)	single nucleotide variant	Pathogenic	rs878853123	GRCh38	Chromosome 11, 72233471: 72233471
20	INPPL1	NM_001567.3(INPPL1): c.24_39del16 (p.Gly9Trpfs)	deletion	no interpretation for the single variant	rs878853119	GRCh37	Chromosome 11, 71936052: 71936067
21	INPPL1	NM_001567.3(INPPL1): c.24_39del16 (p.Gly9Trpfs)	deletion	no interpretation for the single variant	rs878853119	GRCh38	Chromosome 11, 72225008: 72225023
22	INPPL1	NM_001567.3(INPPL1): c.35dup (p.Ala13Argfs)	duplication	no interpretation for the single variant	rs878853122	GRCh37	Chromosome 11, 71936063: 71936063
23	INPPL1	NM_001567.3(INPPL1): c.35dup (p.Ala13Argfs)	duplication	no interpretation for the single variant	rs878853122	GRCh38	Chromosome 11, 72225019: 72225019
24	INPPL1	NM_001567.3(INPPL1): c.753G> C (p.Gln251His)	single nucleotide variant	no interpretation for the single variant	rs878853120	GRCh37	Chromosome 11, 71940602: 71940602
25	INPPL1	NM_001567.3(INPPL1): c.753G> C (p.Gln251His)	single nucleotide variant	no interpretation for the single variant	rs878853120	GRCh38	Chromosome 11, 72229558: 72229558
26	INPPL1	NM_001567.3(INPPL1): c.768_769delAG (p.Glu258Alafs)	deletion	Pathogenic	rs746647683	GRCh37	Chromosome 11, 71940721: 71940722
27	INPPL1	NM_001567.3(INPPL1): c.768_769delAG (p.Glu258Alafs)	deletion	Pathogenic	rs746647683	GRCh38	Chromosome 11, 72229677: 72229678
28	INPPL1	NM_001567.3(INPPL1): c.1687_1691delACCTC (p.Thr563Glyfs)	deletion	no interpretation for the single variant	rs878853121	GRCh37	Chromosome 11, 71943355: 71943359
29	INPPL1	NM_001567.3(INPPL1): c.1687_1691delACCTC (p.Thr563Glyfs)	deletion	no interpretation for the single variant	rs878853121	GRCh38	Chromosome 11, 72232311: 72232315
30	INPPL1	NM_001567.3(INPPL1): c.2071C> T (p.Arg691Trp)	single nucleotide variant	Pathogenic	rs878853123	GRCh37	Chromosome 11, 71944515: 71944515
31	INPPL1	NM_001567.3(INPPL1): c.1845dup (p.Ile616Tyrfs)	duplication	Pathogenic	rs1135401750	GRCh38	Chromosome 11, 72232758: 72232758
32	INPPL1	NM_001567.3(INPPL1): c.1845dup (p.Ile616Tyrfs)	duplication	Pathogenic	rs1135401750	GRCh37	Chromosome 11, 71943802: 71943802
33	INPPL1	NM_001567.3(INPPL1): c.1636G> A (p.Val546Ile)	single nucleotide variant	Uncertain significance	rs376117918	GRCh37	Chromosome 11, 71943304: 71943304
34	INPPL1	NM_001567.3(INPPL1): c.1636G> A (p.Val546Ile)	single nucleotide variant	Uncertain significance	rs376117918	GRCh38	Chromosome 11, 72232260: 72232260
35	INPPL1	NM_001567.4(INPPL1): c.1108_1155del (p.Ser370_Lys385del)	deletion	Uncertain significance		GRCh38	Chromosome 11, 72230379: 72230426
36	INPPL1	NM_001567.4(INPPL1): c.1108_1155del (p.Ser370_Lys385del)	deletion	Uncertain significance		GRCh37	Chromosome 11, 71941423: 71941470

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Expression for Opsismodysplasia

Search GEO for disease gene expression data for Opsismodysplasia.

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Pathways for Opsismodysplasia

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GO Terms for Opsismodysplasia

Biological processes related to Opsismodysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	skeletal system development	GO:0001501	9.32	PHEX SH3PXD2B
2	bone development	GO:0060348	9.26	PHEX SH3PXD2B
3	cellular response to vitamin D	GO:0071305	9.16	FGF23 PHEX
4	cellular response to parathyroid hormone stimulus	GO:0071374	8.96	FGF23 PHEX
5	response to sodium phosphate	GO:1904383	8.62	FGF23 PHEX

Molecular functions related to Opsismodysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	SH2 domain binding	GO:0042169	8.62	INPPL1 SH3PXD2B

Sources

Sources for Opsismodysplasia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

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⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

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⁶⁰ Orphanet

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⁶² PharmGKB

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⁷⁰ SNOMED-CT via HPO

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⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Opsismodysplasia (OPSMD)

Aliases & Classifications for Opsismodysplasia

MalaCards integrated aliases for Opsismodysplasia:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Opsismodysplasia

Related Diseases for Opsismodysplasia

Diseases related to Opsismodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Opsismodysplasia:

Symptoms & Phenotypes for Opsismodysplasia

Human phenotypes related to Opsismodysplasia:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Opsismodysplasia:

Drugs & Therapeutics for Opsismodysplasia

Genetic Tests for Opsismodysplasia

Genetic tests related to Opsismodysplasia:

Anatomical Context for Opsismodysplasia

MalaCards organs/tissues related to Opsismodysplasia:

Publications for Opsismodysplasia

Articles related to Opsismodysplasia:

Genes for Opsismodysplasia

Genes related to Opsismodysplasia (1 elite genes):

Variations for Opsismodysplasia

UniProtKB/Swiss-Prot genetic disease variations for Opsismodysplasia:

ClinVar genetic disease variations for Opsismodysplasia:

Expression for Opsismodysplasia

Pathways for Opsismodysplasia

GO Terms for Opsismodysplasia

Biological processes related to Opsismodysplasia according to GeneCards Suite gene sharing:

Molecular functions related to Opsismodysplasia according to GeneCards Suite gene sharing:

Sources for Opsismodysplasia