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 ⁵⁷ ¹³

Split-Hand/foot Malformation with Long Bone Deficiency ⁵⁷ ⁵³

Tibial Aplasia with Split-Hand/split-Foot Deformity ⁵⁷ ⁵³

Ectrodactyly with Aplasia of Long Bones ⁵⁷ ⁵³

Aplasia of Tibia with Ectrodactyly ⁵⁷ ⁵³

Shfld ⁵⁷ ⁵³

Split-Hand/foot Malformation with Long Bone Deficiency; Shfld ⁵⁷

Split-Hand-Foot Malformation with Long Bone Deficiency 1 ⁷²

Cleft Hand and Absent Tibia ⁵⁷

Cleft Hand Absent Tibia ⁵³

Shfld1 ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

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 ⁵⁷ 119100

MedGen ⁴² C1861553

UMLS ⁷² C1861553

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

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3329DefinitionTibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.EpidemiologyThe incidence is estimated to be approximately 1 in 1,000,000 live births.Clinical descriptionThe 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.EtiologyTwo 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 diagnosisOverlap with the Gollop-Wolfgang syndrome (see this term) has been described.Genetic counselingThe 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 with long bone deficiency 2 and chromosome 17p13.3, telomeric, duplication syndrome. 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
1	split-hand/foot malformation with long bone deficiency 2	13.1
2	chromosome 17p13.3, telomeric, duplication syndrome	12.9
3	tibial aplasia-ectrodactyly syndrome	11.9
4	brachydactyly-ectrodactyly with fibular aplasia or hypoplasia	11.3
5	split-hand/foot malformation 1	10.5
6	split hand-foot malformation	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:

³² (show all 10)

#	Description	HPO Source Accession
1	split hand ³²	HP:0001171
2	short hallux ³²	HP:0010109
3	cupped ear ³²	HP:0000378
4	aplasia/hypoplasia of the ulna ³²	HP:0006495
5	patellar aplasia ³²	HP:0006443
6	split foot ³²	HP:0001839
7	absent tibia ³²	HP:0009556
8	hand monodactyly ³²	HP:0004058
9	absent forearm ³²	HP:0005632
10	aplasia of the 3rd finger ³²	HP:0009460

Symptoms via clinical synopsis from OMIM:

⁵⁷

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:

⁴¹

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. ³⁸ ⁸	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. ³⁸ ⁸	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. ⁸	Naveed M...Radhakrishna U	16688753	2006
4	Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance. ⁸	Witters I...Fryns JP	11754046	2001
5	Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types? ⁸	Majewski E...Meinecke P	8723107	1996
6	On the inheritance of the split hand/split foot malformation. ⁸	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. ⁸	Marinoni JC...Schwartz C	7987314	1994
8	Bilateral split-hand with bilateral tibial aplasia. ⁸	Sener RN...Sener F	2748235	1989
9	Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation. ⁸	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. ⁸	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. ³⁸	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. ³⁸	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. ³⁸	Shen Y...Zhang X	29970136	2018
14	A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case. ³⁸	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. ³⁸	Al Kaissi A...Grill F	24838992	2014
16	Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation. ³⁸	Baquero-Montoya C...Pie J	24874887	2014
17	Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. ³⁸	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. ³⁸	Petit F...Mathieu-Dramard M	23202277	2013
19	17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). ³⁸	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	59.21	Genetic linkage ⁵⁷ GeneCards inferred via : Gene name (show sections)
2	SHFLD2	Split-Hand/Foot Malformation With Long Deficiency 2	Genetic Locus	50	MalaCards inferred ⁴¹

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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