Mesomelic Dysplasia, Savarirayan Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Mesomelic Dysplasia, Savarirayan Type

MalaCards integrated aliases for Mesomelic Dysplasia, Savarirayan Type:

Name: Mesomelic Dysplasia, Savarirayan Type ⁵⁶ ⁵⁸

Mesomelic Dysplasia with Absent Fibulas and Triangular Tibias ⁵⁶ ⁵² ⁵⁸

Triangular Tibia-Fibular Aplasia Syndrome ⁵⁸

Mesomelic Dysplasia Savarirayan Type ⁵²

Triangular Tibia and Fibular Aplasia ⁵²

Characteristics:

Orphanet epidemiological data:

⁵⁸

mesomelic dysplasia, savarirayan type
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

mesomelic dysplasia, savarirayan type:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Other specified osteochondrodysplasias

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 605274

ICD10 via Orphanet ³³ Q78.8

UMLS via Orphanet ⁷² C1854470

Orphanet ⁵⁸ ORPHA85170

MedGen ⁴¹ C1854470

SNOMED-CT via HPO ⁶⁸ 105985007 125617002 157265008 more

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Summaries for Mesomelic Dysplasia, Savarirayan Type

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85170 Definition Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. Visit the Orphanet disease page for more resources.

MalaCards based summary : Mesomelic Dysplasia, Savarirayan Type, also known as mesomelic dysplasia with absent fibulas and triangular tibias, is related to alacrima, achalasia, and mental retardation syndrome and mesomelia. An important gene associated with Mesomelic Dysplasia, Savarirayan Type is ID4 (Inhibitor Of DNA Binding 4, HLH Protein). Affiliated tissues include bone, and related phenotypes are skeletal dysplasia and bowing of the long bones

More information from OMIM: 605274

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Related Diseases for Mesomelic Dysplasia, Savarirayan Type

Diseases related to Mesomelic Dysplasia, Savarirayan Type via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	alacrima, achalasia, and mental retardation syndrome	10.4
2	mesomelia	10.4

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Symptoms & Phenotypes for Mesomelic Dysplasia, Savarirayan Type

Human phenotypes related to Mesomelic Dysplasia, Savarirayan Type:

⁵⁸ ³¹ (show all 22)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	skeletal dysplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002652
2	bowing of the long bones ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006487
3	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
4	hip dislocation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002827
5	metatarsus valgus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010508
6	narrow iliac wings ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002868
7	fibular aplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002990
8	mesomelia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003027
9	high iliac wings ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008808
10	flared radial metaphysis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004018
11	broad tibial metaphyses ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006413
12	hypoplasia of proximal radius ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006434
13	glenoid fossa hypoplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006633
14	intellectual disability ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001249
15	elbow dislocation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003042
16	global developmental delay ³¹			HP:0001263
17	abnormality of the thorax ³¹			HP:0000765
18	abnormality of the foot ³¹			HP:0001760
19	dislocated radial head ³¹			HP:0003083
20	short tibia ³¹			HP:0005736
21	talipes equinovalgus ³¹			HP:0001772
22	delayed closure of the anterior fontanelle ³¹			HP:0001476

Symptoms via clinical synopsis from OMIM:

⁵⁶

Growth Height:
short stature

Skeletal Limbs:
dislocation of radial head
hypoplastic tibia
mesomelic limb shortening (lower limb greater than upper limb)
proximal widening of ulna
oval or triangular-shaped tibia
more

Skeletal Feet:
normal phalanges
equinovalgus
normal tarsal
normal metatarsals

Skeletal Hands:
normal hands

Neurologic Central Nervous System:
developmental delay

Skeletal Pelvis:
dislocated hips
hypoplastic acetabular roof
widened sacro-sciatic notch
tall, narrow ilia

Head And Neck Head:
delayed closure of anterior fontanelle

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic glenoid

Clinical features from OMIM:

605274

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Drugs & Therapeutics for Mesomelic Dysplasia, Savarirayan Type

Search Clinical Trials , NIH Clinical Center for Mesomelic Dysplasia, Savarirayan Type

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Genetic Tests for Mesomelic Dysplasia, Savarirayan Type

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Anatomical Context for Mesomelic Dysplasia, Savarirayan Type

MalaCards organs/tissues related to Mesomelic Dysplasia, Savarirayan Type:

⁴⁰

Bone

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Publications for Mesomelic Dysplasia, Savarirayan Type

Articles related to Mesomelic Dysplasia, Savarirayan Type:

#	Title	Authors	PMID	Year
1	Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. ⁵⁶ ⁶¹	Flottmann R...Spielmann M	26032025	2015
2	Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. ⁵⁶ ⁶¹	Steichen-Gersdorf E...Mundlos S	18616733	2008
3	Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. ⁵⁶	Kraft K...Andrey G	25660031	2015
4	Hypereosinophilic syndrome and hemimelia in a patient with chromosome 6p22.3 deletion. ⁵⁶	Ladinsky HT...Sleasman JW	24628666	2014
5	A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia Savarirayan and Nievergelt types. ⁵⁶	Nakamura M...Nishimura G	17702012	2007
6	New mesomelic dysplasia with absent fibulae and triangular tibiae. ⁵⁶	Savarirayan R...Lachman RS	10982484	2000
7	Congenital transverse deficiency of the tibia and fibula: a report of two cases. ⁵⁶	Yasui N...Sato M	10855476	2000

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Genes for Mesomelic Dysplasia, Savarirayan Type

Genes related to Mesomelic Dysplasia, Savarirayan Type (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ID4	Inhibitor Of DNA Binding 4, HLH Protein	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)

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Variations for Mesomelic Dysplasia, Savarirayan Type

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Expression for Mesomelic Dysplasia, Savarirayan Type

Search GEO for disease gene expression data for Mesomelic Dysplasia, Savarirayan Type.

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Pathways for Mesomelic Dysplasia, Savarirayan Type

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GO Terms for Mesomelic Dysplasia, Savarirayan Type

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