Ulnar Hypoplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Ulnar Hypoplasia

MalaCards integrated aliases for Ulnar Hypoplasia:

Name: Ulnar Hypoplasia ⁵⁶ ⁵² ⁷¹

Upper Limb Mesomelic Dysplasia ⁵⁶ ⁵² ⁵⁸

Ulna Hypoplasia ⁵² ⁵⁸

Fryns Hofkens Fabry Syndrome ⁵²

Fryns-Hofkens-Fabry Syndrome ⁵⁸

Hypoplasia of the Ulna ²⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

upper limb mesomelic dysplasia
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

ulnar hypoplasia:
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 191440

ICD10 via Orphanet ³³ Q78.8

UMLS via Orphanet ⁷² C1860614

Orphanet ⁵⁸ ORPHA2497

MedGen ⁴¹ C1860614

SNOMED-CT via HPO ⁶⁸ 205170001 249757009 263681008 more

UMLS ⁷¹ C1860614

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Summaries for Ulnar Hypoplasia

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2497 Definition This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity . Visit the Orphanet disease page for more resources.

MalaCards based summary : Ulnar Hypoplasia, also known as upper limb mesomelic dysplasia, is related to ulnar hypoplasia with lobster-claw deformity of feet and ulnar hypoplasia with mental retardation. An important gene associated with Ulnar Hypoplasia is NFIX (Nuclear Factor I X). Affiliated tissues include bone, bone marrow and heart, and related phenotypes are ulnar deviation of finger and hypoplasia of the ulna

More information from OMIM: 191440

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Related Diseases for Ulnar Hypoplasia

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

(show all 18)

#	Related Disease	Score
1	ulnar hypoplasia with lobster-claw deformity of feet	12.6
2	ulnar hypoplasia with mental retardation	12.3
3	fibuloulnar aplasia or hypoplasia with renal abnormalities	12.0
4	wt limb-blood syndrome	11.6
5	ulna hypoplasia-intellectual disability syndrome	11.3
6	langer mesomelic dysplasia	11.2
7	enchondromatosis, multiple, ollier type	10.0
8	mesomelia	10.0
9	leukemia, acute monocytic	9.9
10	neurofibromatosis, type i	9.9
11	fanconi anemia, complementation group a	9.9
12	leukemia, acute lymphoblastic	9.9
13	scoliosis	9.9
14	microcephaly	9.9
15	synostosis	9.9
16	monocytic leukemia	9.9
17	neurofibromatosis	9.9
18	acute monoblastic leukemia	9.9

Graphical network of the top 20 diseases related to Ulnar Hypoplasia:

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Symptoms & Phenotypes for Ulnar Hypoplasia

Human phenotypes related to Ulnar Hypoplasia:

⁵⁸ ³¹ (show all 8)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	ulnar deviation of finger ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0009465
2	hypoplasia of the ulna ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003022
3	radial bowing ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002986
4	hypoplasia of the radius ³¹			HP:0002984
5	mesomelic arm shortening ³¹			HP:0005011
6	ulnar deviation of the hand ³¹			HP:0009487
7	distal ulnar hypoplasia ³¹			HP:0005033
8	radial dysplasia ³¹			HP:0006433

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skeletal Hands:
ulnar deviation of hands

Skeletal Limbs:
mesomelia, severe (arms only)
ulnar hypoplasia, distal
radial bowing, severe (adult)
short, dysplastic radii
short, dysplastic ulnae

Clinical features from OMIM:

191440

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Drugs & Therapeutics for Ulnar Hypoplasia

Search Clinical Trials , NIH Clinical Center for Ulnar Hypoplasia

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Genetic Tests for Ulnar Hypoplasia

Genetic tests related to Ulnar Hypoplasia:

#	Genetic test	Affiliating Genes
1	Hypoplasia of the Ulna ²⁹

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Anatomical Context for Ulnar Hypoplasia

MalaCards organs/tissues related to Ulnar Hypoplasia:

⁴⁰

Bone, Bone Marrow, Heart

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Publications for Ulnar Hypoplasia

Articles related to Ulnar Hypoplasia:

(show all 21)

#	Title	Authors	PMID	Year
1	Severe autosomal dominant upper-limb mesomelic dysplasia: report of a second family. ⁶¹ ⁵⁶	Megarbane A...Ghanem I	16283892	2005
2	Isolated mesomelic shortening of the forearm in father and daughter: a new entity in the group of mesomelic dysplasias. ⁵⁶	Fryns JP...van den Berghe H	3342548	1988
3	Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child. ⁶¹	Malik S...Afzal M	24381628	2013
4	Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3. ⁶¹	Jamsheer A...Latos-Bielenska A	23342975	2013
5	TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype. ⁶¹	Patel C...Cox H	22333898	2012
6	Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. ⁶¹	Quelin C...Gonzales M	22226660	2012
7	[Thalidomide (Contergan) induced limb deficiency in Hungary?]. ⁶¹	Gidai J...Czeizel E	19497840	2009
8	Ulnar hypoplasia and neurofibromatosis type I. ⁶¹	Vargiami E...Bantouraki M	15580221	2004
9	Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. ⁶¹	Morava E...Mehes K	14564152	2003
10	Radiological findings in three cases of paraxial radial hemimelia in goats. ⁶¹	Corbera JA...Gutierrez C	12399612	2002
11	Proximal focal femoral deficiency, contralateral hip dysplasia in association with contralateral ulnar hypoplasia and clefthand: a case report and review of literatures of PFFD and/or FFU. ⁶¹	Kalaycioglu A...Aynaci O	11732209	2001
12	Overlap between Baller-Gerold and Rothmund-Thomson syndrome. ⁶¹	Megarbane A...Loiselet J	11045594	2000
13	Multiple congenital synostosis of the upper limb associated with ulnar hypoplasia and cleft hand. A case report. ⁶¹	Sahoo MM...Samal BK	8739706	1996
14	Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome. ⁶¹	Kohn G...Rimoin DL	7625433	1995
15	Peters' anomaly and associated congenital malformations. ⁶¹	Traboulsi EI...Maumenee IH	1463415	1992
16	Humero-radial synostosis with ulnar defects in sibs. ⁶¹	Ramer JC...Ladda RL	2669480	1989
17	Radial agenesis and ulnar hypoplasia in two caprine kids. ⁶¹	Baum KH...Weisbrode SE	3972675	1985
18	Constricted maxilla and mandible, scoliosis, bowed radii, ulnar hypoplasia, acromicria and microcephaly with mental retardation--a new autosomal recessive syndrome? ⁶¹	Cortada X...Matsumoto GM	7139102	1982
19	The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia. ⁶¹	Gonzalez CH...Opitz JM	890097	1977
20	Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder. ⁶¹	Cantu JM...Franco-Vazquez S	1218241	1975
21	[Fibulo-ulnar hypoplasia with spherical ankle joint, radiation defects and synostoses]. ⁶¹	Henssge J...Engelke B	4245894	1970

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Genes for Ulnar Hypoplasia

Genes related to Ulnar Hypoplasia (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NFIX	Nuclear Factor I X	Protein Coding	6.99	GeneCards inferred via : Variants (show sections)

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Variations for Ulnar Hypoplasia

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Expression for Ulnar Hypoplasia

Search GEO for disease gene expression data for Ulnar Hypoplasia.

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Pathways for Ulnar Hypoplasia

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GO Terms for Ulnar Hypoplasia

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