Geleophysic Dysplasia 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Geleophysic Dysplasia 3

MalaCards integrated aliases for Geleophysic Dysplasia 3:

Name: Geleophysic Dysplasia 3 ⁵⁷ ⁷⁵ ⁶

Gphysd3 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
based on report of a family and 2 unrelated patients (last curated december 2017)
early death due to respiratory failure (in some patients)

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617809

MedGen ⁴² C4540511 CN696019

MeSH ⁴⁴ D004392

SNOMED-CT via HPO ⁶⁹ 249321001 708670007 43476002 more

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Summaries for Geleophysic Dysplasia 3

UniProtKB/Swiss-Prot : ⁷⁵ Geleophysic dysplasia 3: A form of geleophysic dysplasia, a rare skeletal disease characterized by severe short stature, short hands and feet, and joint limitations. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include skin thickening, progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. GPHYSD3 inheritance is autosomal dominant.

MalaCards based summary : Geleophysic Dysplasia 3, is also known as gphysd3. An important gene associated with Geleophysic Dysplasia 3 is LTBP3 (Latent Transforming Growth Factor Beta Binding Protein 3). Affiliated tissues include bone and skin, and related phenotypes are depressed nasal bridge and wide nasal bridge

Description from OMIM: 617809

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Related Diseases for Geleophysic Dysplasia 3

Diseases in the Geleophysic Dysplasia family:

Geleophysic Dysplasia 1	Geleophysic Dysplasia 2
Geleophysic Dysplasia 3

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Symptoms & Phenotypes for Geleophysic Dysplasia 3

Symptoms via clinical synopsis from OMIM:

⁵⁷

Respiratory Nasopharynx:
sleep apnea

Head And Neck Nose:
depressed nasal bridge
anteverted nares
bulbous nose
broad nasal bridge

Respiratory:
dyspnea

Head And Neck Face:
round face
long philtrum (in some patients)

Voice:
hoarse voice

Cardiovascular Vascular:
pulmonary hypertension

Head And Neck Eyes:
well-defined eyebrows

Skeletal:
delayed bone age

Skin Nails Hair Skin:
thick skin

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (in some patients)

Abdomen Liver:
hepatomegaly

Growth Height:
short stature

Respiratory Lung:
respiratory failure
alveolointerstitial pneumonia

Respiratory Airways:
tracheal stenosis

Respiratory Larynx:
subglottic stenosis

Muscle Soft Tissue:
pseudomuscular build

Head And Neck Mouth:
thick lips

Skeletal Feet:
short feet

Skeletal Limbs:
short limbs
limited movement at elbows
limited movement at wrists
epiphyseal dysplasia of proximal femur

Skeletal Hands:
marked brachydactyly
difficulty making a fist
external notch on second metacarpal
internal notch on fifth metacarpal

Clinical features from OMIM:

617809

Human phenotypes related to Geleophysic Dysplasia 3:

³² (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	depressed nasal bridge ³²		HP:0005280
2	wide nasal bridge ³²		HP:0000431
3	anteverted nares ³²		HP:0000463
4	long philtrum ³²	very rare (1%)	HP:0000343
5	epiphyseal dysplasia ³²		HP:0002656
6	respiratory failure ³²		HP:0002878
7	brachydactyly ³²		HP:0001156
8	round face ³²		HP:0000311
9	bulbous nose ³²		HP:0000414
10	pneumonia ³²		HP:0002090
11	limb undergrowth ³²		HP:0009826

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Drugs & Therapeutics for Geleophysic Dysplasia 3

Search Clinical Trials , NIH Clinical Center for Geleophysic Dysplasia 3

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Genetic Tests for Geleophysic Dysplasia 3

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Anatomical Context for Geleophysic Dysplasia 3

MalaCards organs/tissues related to Geleophysic Dysplasia 3:

⁴¹

Bone, Skin

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Publications for Geleophysic Dysplasia 3

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Genes for Geleophysic Dysplasia 3

Genes related to Geleophysic Dysplasia 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	927.29	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	20301776 27068007

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Variations for Geleophysic Dysplasia 3

ClinVar genetic disease variations for Geleophysic Dysplasia 3:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LTBP3	NM_001130144.2(LTBP3): c.2087C> G (p.Ser696Cys)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 11, 65547459: 65547459
2	LTBP3	NM_001130144.2(LTBP3): c.2087C> G (p.Ser696Cys)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 11, 65314930: 65314930
3	LTBP3	NM_001130144.2(LTBP3): c.3912A> T (p.Ter1304Cys)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 11, 65539080: 65539080
4	LTBP3	NM_001130144.2(LTBP3): c.3912A> T (p.Ter1304Cys)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 11, 65306551: 65306551
5	LTBP3	NM_001130144.2(LTBP3): c.1846+5G> A	single nucleotide variant	Pathogenic		GRCh37	Chromosome 11, 65315386: 65315386
6	LTBP3	NM_001130144.2(LTBP3): c.1846+5G> A	single nucleotide variant	Pathogenic		GRCh38	Chromosome 11, 65547915: 65547915
7	LTBP3	NM_021070.4(LTBP3): c.989C> T (p.Pro330Leu)	single nucleotide variant	Uncertain significance	rs28403592	GRCh37	Chromosome 11, 65320709: 65320709
8	LTBP3	NM_021070.4(LTBP3): c.989C> T (p.Pro330Leu)	single nucleotide variant	Uncertain significance	rs28403592	GRCh38	Chromosome 11, 65553238: 65553238

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Expression for Geleophysic Dysplasia 3

Search GEO for disease gene expression data for Geleophysic Dysplasia 3.

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Pathways for Geleophysic Dysplasia 3

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GO Terms for Geleophysic Dysplasia 3

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Sources for Geleophysic Dysplasia 3

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Geleophysic Dysplasia 3 (GPHYSD3)

Aliases & Classifications for Geleophysic Dysplasia 3

MalaCards integrated aliases for Geleophysic Dysplasia 3:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Geleophysic Dysplasia 3

Related Diseases for Geleophysic Dysplasia 3

Diseases in the Geleophysic Dysplasia family:

Symptoms & Phenotypes for Geleophysic Dysplasia 3

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Geleophysic Dysplasia 3:

Drugs & Therapeutics for Geleophysic Dysplasia 3

Genetic Tests for Geleophysic Dysplasia 3

Anatomical Context for Geleophysic Dysplasia 3

MalaCards organs/tissues related to Geleophysic Dysplasia 3:

Publications for Geleophysic Dysplasia 3

Genes for Geleophysic Dysplasia 3

Genes related to Geleophysic Dysplasia 3 (1 elite genes):

Variations for Geleophysic Dysplasia 3

ClinVar genetic disease variations for Geleophysic Dysplasia 3:

Expression for Geleophysic Dysplasia 3

Pathways for Geleophysic Dysplasia 3

GO Terms for Geleophysic Dysplasia 3

Sources for Geleophysic Dysplasia 3