Hairy Elbows disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hairy Elbows

MalaCards integrated aliases for Hairy Elbows:

Name: Hairy Elbows ⁵⁷ ¹⁹ ⁷¹

Hypertrichosis Cubiti ⁵⁷ ¹⁹ ⁵⁸ ⁷⁵

Macdermot-Patton-Williams Syndrome ⁵⁸

Hairy Elbows Syndrome ⁵⁸

Hairy Elbow Syndrome ⁷⁵

Characteristics:

Inheritance:

Hairy Elbows: Autosomal dominant ⁵⁷

Hypertrichosis Cubiti: Autosomal dominant ⁵⁸

Prevelance:

Hypertrichosis Cubiti: <1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Hypertrichosis Cubiti: Childhood ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Skin diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of integument

Other congenital malformations of hair

Orphanet: ⁵⁸

Rare skin diseases

Developmental anomalies during embryogenesis

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Summaries for Hairy Elbows

GARD: ¹⁹ Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.

MalaCards based summary: Hairy Elbows, also known as hypertrichosis cubiti, is related to wiedemann-steiner syndrome and hypertrichosis. An important gene associated with Hairy Elbows is KMT2A (Lysine Methyltransferase 2A). Affiliated tissues include skin and bone, and related phenotypes are generalized hirsutism and micromelia

Orphanet: ⁵⁸ Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.

OMIM®: ⁵⁷ Hairy elbows is a rare form of localized hypertrichosis. The lanugo type of hair usually appears in infancy, becomes coarser during early childhood, and regresses at adolescence (summary by Visser et al., 2002). (139600) (Updated 08-Dec-2022)

Wikipedia: ⁷⁵ Hypertrichosis cubiti (also known as "hairy elbow syndrome") is a cutaneous condition characterized by... more...

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Related Diseases for Hairy Elbows

Diseases related to Hairy Elbows via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score
1	wiedemann-steiner syndrome	11.7
2	hypertrichosis	10.5
3	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.1
4	scoliosis	10.1
5	ptosis	10.1
6	syringomyelia	10.1
7	precocious puberty	10.1
8	hypotonia	10.1
9	idiopathic syringomyelia	10.1
10	hemifacial hyperplasia	10.0
11	west syndrome	10.0
12	weill-marchesani syndrome	10.0
13	microcephaly	10.0
14	osteochondrodysplasia	10.0

Graphical network of the top 20 diseases related to Hairy Elbows:

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Symptoms & Phenotypes for Hairy Elbows

Human phenotypes related to Hairy Elbows:

⁵⁸ ³⁰ (show all 31)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	generalized hirsutism ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002230
2	micromelia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002983
3	abnormality of the elbow ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0009811
4	severe short stature ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0003510
5	rhizomelia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0008905
6	abnormality of skin morphology ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0011121
7	facial asymmetry ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000324
8	round face ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000311
9	aphasia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002381
10	echolalia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0010529
11	mutism ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002300
12	intellectual disability ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001249
13	ptosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000508
14	global developmental delay ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001263
15	delayed skeletal maturation ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002750
16	microcephaly ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000252
17	thick eyebrow ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000574
18	specific learning disability ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001328
19	abnormal eyelash morphology ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000499
20	downslanted palpebral fissures ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000494
21	joint hyperflexibility ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0005692
22	prominent nasal bridge ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000426
23	high forehead ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000348
24	abnormality of the neck ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000464
25	abnormal nasolacrimal system morphology ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000614
26	abnormal facial shape ³⁰	Very rare (1%)		HP:0001999
27	short stature ³⁰	Very rare (1%)		HP:0004322
28	dysphasia ⁵⁸		Frequent (79-30%)
29	abnormality of the face ⁵⁸		Occasional (29-5%)
30	abnormal eyelid morphology ⁵⁸		Occasional (29-5%)
31	elbow hypertrichosis ³⁰			HP:0004780

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Growth:
short stature

Hair:
hypertrichosis limited to elbows

Clinical features from OMIM®:

139600 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Hairy Elbows

Search Clinical Trials, NIH Clinical Center for Hairy Elbows

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Genetic Tests for Hairy Elbows

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Anatomical Context for Hairy Elbows

Organs/tissues related to Hairy Elbows:

MalaCards : Skin, Bone

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Publications for Hairy Elbows

Articles related to Hairy Elbows:

(show all 45)

#	Title	Authors	PMID	Year
1	Hypertrichosis cubiti: two new cases and a review of the literature. ⁶² ⁵⁷	Visser R...De Nef JJ	12558109	2002
2	Hypertrichosis cubiti. ⁶² ⁵⁷	Di Lernia V...Patrizi A	8624162	1996
3	Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. ⁶² ⁵⁷	MacDermot KD...Winter RM	2738900	1989
4	Hairy elbows. ⁶² ⁵⁷	Rudolph RI	4017657	1985
5	Hairy elbows. ⁶² ⁵⁷	Andreev VC...Stransky L	453885	1979
6	Familial hypertrichosis cubiti: hairy elbows syndrome. ⁶² ⁵⁷	Beighton P	5519603	1970
7	Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features. ⁶²	Carman KB...Yarar C	35769955	2022
8	Wiedemann-Steiner Syndrome ⁶²	Sheppard SE...Quintero-Rivera F	35617449	2022
9	Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome. ⁶²	Foroutan A...Lebre AS	35163737	2022
10	Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan. ⁶²	Lee CL...Lin SP	34828665	2021
11	Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. ⁶²	Sheppard SE...Quintero-Rivera F	33783954	2021
12	Wiedemann-Steiner syndrome: A case report. ⁶²	Hirst L...Evans R	33768801	2021
13	Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome. ⁶²	Nardello R...Salpietro V	33387673	2021
14	Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report. ⁶²	Wang X...Wu W	33325147	2021
15	Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report. ⁶²	Jinxiu L...Wenyuan D	32311999	2020
16	Wiedemann-Steiner syndrome in two patients from Portugal. ⁶²	Grangeia A...Moura CP	31710778	2020
17	[Hypertrichosis cubiti in a girl with precocious puberty: Case report]. ⁶²	Herrero-Morin JD...Molinos Norniella C	30457733	2018
18	Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. ⁶²	Baer S...Morin G	29574747	2018
19	Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. ⁶²	Min Ko J...Cho TJ	27777327	2017
20	Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. ⁶²	Sun Y...Yu Y	27759909	2017
21	Hypertrichosis cubiti, a case report and literature review. ⁶²	Tng VE...de Zwaan S	26862409	2016
22	Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. ⁶²	Miyake N...Matsumoto N	25810209	2016
23	Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome. ⁶²	Steel D...Kinali M	26690532	2015
24	A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. ⁶²	Dunkerton S...Goel H	25929198	2015
25	Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome). ⁶²	Pavone V...Sessa G	27299038	2015
26	De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. ⁶²	Strom SP...Quintero-Rivera F	24886118	2014
27	Hairy elbows - A case study. ⁶²	Fernandez-Crehuet P...Serrano JL	24217102	2013
28	De novo mutations in MLL cause Wiedemann-Steiner syndrome. ⁶²	Jones WD...Simpson MA	22795537	2012
29	Hypertrichosis cubiti: another case of a well-recognized but under-reported entity. ⁶²	Martinez de Lagran Z...Soloeta-Arechavala R	20609159	2010
30	[Hypertrichosis cubiti (hairy elbows syndrome)]. ⁶²	Leon-Muinos E...Bermudez E	19726250	2009
31	The hairy elbows syndrome: clinical and neuroradiological findings. ⁶²	Nardello R...Corsello G	19320141	2008
32	[Two cases of hypertrichosis cubiti]. ⁶²	Yuste-Chaves M...Bravo-Piris J	18035036	2007
33	A new case of hairy elbows syndrome (hypertrichosis cubiti). ⁶²	Koc A...Percin EF	18019374	2007
34	Hairy elbows syndrome. ⁶²	Rosina P...Barba A	16445502	2006
35	Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome. ⁶²	Polizzi A...Ruggieri M	16355816	2005
36	Primary generalized and localized hypertrichosis in children. ⁶²	Vashi RA...Paller AS	11453806	2001
37	A sporadic form of hypertrichosis cubiti. ⁶²	Schwarze HP...Bazex J	10681173	1999
38	Hairy elbows. ⁶²	Cambiaghi S...Gelmetti C	9585909	1998
39	Hypertrichosis cubiti: a case in a Sri Lankan family. ⁶²	Lestringant GG...Frossard PM	9159015	1997
40	A new case of hairy elbows syndrome (Hypertrichosis cubiti). ⁶²	Escalonilla P...Requena L	8844750	1996
41	Hairy elbows. ⁶²	Miller ML...Yeager JK	7611816	1995
42	Hypertrichosis "cubiti" with facial asymmetry. ⁶²	Edwards MJ...Wise G	7802037	1994
43	Hairy elbows syndrome (familial hypertrichosis cubiti). ⁶²	Coleman R...Harper JI	8313649	1994
44	[Hypertrichosis of the elbows]. ⁶²	Plantin P...Guillet G	8161102	1993
45	Hypertrichosis cubiti. ⁶²	Flannery DB...Gilman PA	2773989	1989

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Genes for Hairy Elbows

Genes related to Hairy Elbows (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KMT2A	Lysine Methyltransferase 2A	Protein Coding	16.43	GeneCards inferred via : Disorders Publications (show sections)

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Variations for Hairy Elbows

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Expression for Hairy Elbows

Search GEO for disease gene expression data for Hairy Elbows.

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Pathways for Hairy Elbows

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GO Terms for Hairy Elbows

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Sources for Hairy Elbows

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⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴³ MeSH

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

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⁷⁵ Wikipedia

MCID: HRY005 MIFTS: 28	Hairy Elbows Categories: Fetal diseases, Mental diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Hairy Elbows

Aliases & Classifications for Hairy Elbows

MalaCards integrated aliases for Hairy Elbows:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Hairy Elbows

Related Diseases for Hairy Elbows

Diseases related to Hairy Elbows via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Hairy Elbows:

Symptoms & Phenotypes for Hairy Elbows

Human phenotypes related to Hairy Elbows:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Hairy Elbows

Genetic Tests for Hairy Elbows

Anatomical Context for Hairy Elbows

Organs/tissues related to Hairy Elbows:

Publications for Hairy Elbows

Articles related to Hairy Elbows:

Genes for Hairy Elbows

Genes related to Hairy Elbows (0 elite genes):

Variations for Hairy Elbows

Expression for Hairy Elbows

Pathways for Hairy Elbows

GO Terms for Hairy Elbows

Sources for Hairy Elbows