MCID: GLP007
MIFTS: 16

Geleophysic Dysplasia 3

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

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:



External Ids:

OMIM 57 617809
MeSH 44 D004392

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.

Description from OMIM: 617809

Related Diseases for Geleophysic Dysplasia 3

Diseases in the Geleophysic Dysplasia family:

Geleophysic Dysplasia 1 Geleophysic Dysplasia 2
Geleophysic Dysplasia 3

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

Drugs & Therapeutics for Geleophysic Dysplasia 3

Search Clinical Trials , NIH Clinical Center for Geleophysic Dysplasia 3

Genetic Tests for Geleophysic Dysplasia 3

Anatomical Context for Geleophysic Dysplasia 3

MalaCards organs/tissues related to Geleophysic Dysplasia 3:

41
Bone, Skin

Publications for Geleophysic Dysplasia 3

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 GRCh37 Chromosome 11, 65306551: 65306551
4 LTBP3 NM_001130144.2(LTBP3): c.3912A> T (p.Ter1304Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 65539080: 65539080
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

Expression for Geleophysic Dysplasia 3

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

Pathways for Geleophysic Dysplasia 3

GO Terms for Geleophysic Dysplasia 3

Sources for Geleophysic Dysplasia 3

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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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