Split-Hand/foot Malformation with Long Bone Deficiency 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Split-Hand/foot Malformation with Long Bone Deficiency 1

MalaCards integrated aliases for Split-Hand/foot Malformation with Long Bone Deficiency 1:

Name: Split-Hand/foot Malformation with Long Bone Deficiency 1 ⁵⁶ ¹³

Split-Hand/foot Malformation with Long Bone Deficiency ⁵⁶ ⁵²

Tibial Aplasia with Split-Hand/split-Foot Deformity ⁵⁶ ⁵²

Ectrodactyly with Aplasia of Long Bones ⁵⁶ ⁵²

Aplasia of Tibia with Ectrodactyly ⁵⁶ ⁵²

Shfld ⁵⁶ ⁵²

Split-Hand/foot Malformation with Long Bone Deficiency; Shfld ⁵⁶

Split-Hand-Foot Malformation with Long Bone Deficiency 1 ⁷¹

Cleft Hand and Absent Tibia ⁵⁶

Cleft Hand Absent Tibia ⁵²

Shfld1 ⁵⁶

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

split-hand/foot malformation with long bone deficiency 1:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 119100

MedGen ⁴¹ C1861553

SNOMED-CT via HPO ⁶⁸ 205358006 263681008 299034005

UMLS ⁷¹ C1861553

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Summaries for Split-Hand/foot Malformation with Long Bone Deficiency 1

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3329 Definition Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Epidemiology The incidence is estimated to be approximately 1 in 1,000,000 live births. Clinical description The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears. Etiology Two susceptibility loci at 1q42.2-q43 and 6q14.1 have been identified, leading to the hypothesis that this syndrome fits the model of digenic inheritance. Differential diagnosis Overlap with the Gollop-Wolfgang syndrome (see this term) has been described. Genetic counseling The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance . Autosomal recessive inheritance has also been proposed in some families. Visit the Orphanet disease page for more resources.

MalaCards based summary : Split-Hand/foot Malformation with Long Bone Deficiency 1, also known as split-hand/foot malformation with long bone deficiency, is related to split hand-foot malformation and split-hand/foot malformation with long bone deficiency 2. An important gene associated with Split-Hand/foot Malformation with Long Bone Deficiency 1 is SHFL1 (Split-Hand/Foot Malformation With Long Bone Deficiency 1). Affiliated tissues include bone, and related phenotypes are split hand and short hallux

More information from OMIM: 119100

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Related Diseases for Split-Hand/foot Malformation with Long Bone Deficiency 1

Diseases related to Split-Hand/foot Malformation with Long Bone Deficiency 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	split hand-foot malformation	29.6	SHFLD2 SHFL1
2	split-hand/foot malformation with long bone deficiency 2	13.1
3	chromosome 17p13.3, telomeric, duplication syndrome	12.9
4	tibial aplasia-ectrodactyly syndrome	11.9
5	brachydactyly-ectrodactyly with fibular aplasia or hypoplasia	11.3
6	split-hand/foot malformation 1	10.5
7	hemimelia	10.5
8	isolated split hand-split foot malformation	10.5
9	chromosome 2q35 duplication syndrome	10.3
10	tibial hemimelia	10.3
11	clubfoot	10.3
12	thrombocytopenia-absent radius syndrome	10.1
13	thrombocytopenia	10.1
14	trichorhinophalangeal syndrome, type ii	10.1
15	split-hand/foot malformation 3	10.1

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation with Long Bone Deficiency 1:

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Symptoms & Phenotypes for Split-Hand/foot Malformation with Long Bone Deficiency 1

Human phenotypes related to Split-Hand/foot Malformation with Long Bone Deficiency 1:

³¹ (show all 10)

#	Description	HPO Source Accession
1	split hand ³¹	HP:0001171
2	short hallux ³¹	HP:0010109
3	cupped ear ³¹	HP:0000378
4	aplasia/hypoplasia of the ulna ³¹	HP:0006495
5	patellar aplasia ³¹	HP:0006443
6	split foot ³¹	HP:0001839
7	absent tibia ³¹	HP:0009556
8	hand monodactyly ³¹	HP:0004058
9	absent forearm ³¹	HP:0005632
10	aplasia of the 3rd finger ³¹	HP:0009460

Symptoms via clinical synopsis from OMIM:

⁵⁶

Radiology:
patellar aplasia
distal hypoplasia or bifurcation of the femurs
ulnar hypoplasia/aplasia

Ears:
cup-shaped ears

Limbs:
absent tibia
absent forearm
cleft hand
absent middle finger
flexed ring finger
more

Clinical features from OMIM:

119100

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Drugs & Therapeutics for Split-Hand/foot Malformation with Long Bone Deficiency 1

Search Clinical Trials , NIH Clinical Center for Split-Hand/foot Malformation with Long Bone Deficiency 1

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Genetic Tests for Split-Hand/foot Malformation with Long Bone Deficiency 1

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Anatomical Context for Split-Hand/foot Malformation with Long Bone Deficiency 1

MalaCards organs/tissues related to Split-Hand/foot Malformation with Long Bone Deficiency 1:

⁴⁰

Bone

Sources

Publications for Split-Hand/foot Malformation with Long Bone Deficiency 1

Articles related to Split-Hand/foot Malformation with Long Bone Deficiency 1:

(show all 19)

#	Title	Authors	PMID	Year
1	A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. ⁶¹ ⁵⁶	Babbs C...Wilkie AO	17569090	2007
2	Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. ⁶¹ ⁵⁶	Naveed M...Radhakrishna U	17160898	2007
3	Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. ⁵⁶	Naveed M...Radhakrishna U	16688753	2006
4	Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance. ⁵⁶	Witters I...Fryns JP	11754046	2001
5	Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types? ⁵⁶	Majewski E...Meinecke P	8723107	1996
6	On the inheritance of the split hand/split foot malformation. ⁵⁶	Zlotogora J	7802032	1994
7	Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3-q22.1. ⁵⁶	Marinoni JC...Schwartz C	7987314	1994
8	Bilateral split-hand with bilateral tibial aplasia. ⁵⁶	Sener RN...Sener F	2748235	1989
9	Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation. ⁵⁶	Hoyme HE...Robinow M	3655984	1987
10	Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance. ⁵⁶	Majewski F...Goecke T	4007857	1985
11	The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency. ⁶¹	Kucinska-Chahwan A...Roszkowski T	31307755	2019
12	Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. ⁶¹	Paththinige CS...Dissanayake VHW	31200655	2019
13	17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype. ⁶¹	Shen Y...Zhang X	29970136	2018
14	A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case. ⁶¹	Fusco C...Merla G	28496997	2017
15	A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3. ⁶¹	Al Kaissi A...Grill F	24838992	2014
16	Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation. ⁶¹	Baquero-Montoya C...Pie J	24874887	2014
17	Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. ⁶¹	Petit F...Escande F	23790188	2014
18	Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. ⁶¹	Petit F...Mathieu-Dramard M	23202277	2013
19	17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). ⁶¹	Armour CM...Graham GE	21629300	2011

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Genes for Split-Hand/foot Malformation with Long Bone Deficiency 1

Genes related to Split-Hand/foot Malformation with Long Bone Deficiency 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SHFL1	Split-Hand/Foot Malformation With Long Bone Deficiency 1	Genetic Locus	59.2	Genetic linkage ⁵⁶ GeneCards inferred via : Gene name (show sections)
2	SHFLD2	Split-Hand/Foot Malformation With Long Deficiency 2	Genetic Locus	50	MalaCards inferred ⁴⁰

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Variations for Split-Hand/foot Malformation with Long Bone Deficiency 1

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Expression for Split-Hand/foot Malformation with Long Bone Deficiency 1

Search GEO for disease gene expression data for Split-Hand/foot Malformation with Long Bone Deficiency 1.

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Pathways for Split-Hand/foot Malformation with Long Bone Deficiency 1

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GO Terms for Split-Hand/foot Malformation with Long Bone Deficiency 1

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Sources for Split-Hand/foot Malformation with Long Bone Deficiency 1

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Split-Hand/foot Malformation with Long Bone Deficiency 1 (SHFLD1)

Aliases & Classifications for Split-Hand/foot Malformation with Long Bone Deficiency 1

MalaCards integrated aliases for Split-Hand/foot Malformation with Long Bone Deficiency 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Split-Hand/foot Malformation with Long Bone Deficiency 1

Related Diseases for Split-Hand/foot Malformation with Long Bone Deficiency 1

Diseases related to Split-Hand/foot Malformation with Long Bone Deficiency 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation with Long Bone Deficiency 1:

Symptoms & Phenotypes for Split-Hand/foot Malformation with Long Bone Deficiency 1

Human phenotypes related to Split-Hand/foot Malformation with Long Bone Deficiency 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Split-Hand/foot Malformation with Long Bone Deficiency 1

Genetic Tests for Split-Hand/foot Malformation with Long Bone Deficiency 1

Anatomical Context for Split-Hand/foot Malformation with Long Bone Deficiency 1

MalaCards organs/tissues related to Split-Hand/foot Malformation with Long Bone Deficiency 1:

Publications for Split-Hand/foot Malformation with Long Bone Deficiency 1

Articles related to Split-Hand/foot Malformation with Long Bone Deficiency 1:

Genes for Split-Hand/foot Malformation with Long Bone Deficiency 1

Genes related to Split-Hand/foot Malformation with Long Bone Deficiency 1 (2 elite genes):

Variations for Split-Hand/foot Malformation with Long Bone Deficiency 1

Expression for Split-Hand/foot Malformation with Long Bone Deficiency 1

Pathways for Split-Hand/foot Malformation with Long Bone Deficiency 1

GO Terms for Split-Hand/foot Malformation with Long Bone Deficiency 1

Sources for Split-Hand/foot Malformation with Long Bone Deficiency 1