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

MCID: HRY005 MIFTS: 26	Hairy Elbows Categories: Fetal diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Hairy Elbows

MalaCards integrated aliases for Hairy Elbows:

Name: Hairy Elbows ⁵⁷ ²⁰ ⁷⁰

Hypertrichosis Cubiti ⁵⁷ ²⁰ ⁵⁸

Macdermot-Patton-Williams Syndrome ⁵⁸

Hairy Elbows Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

hypertrichosis cubiti
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal dominant

HPO:

³¹

hairy elbows:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

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

External Ids:

OMIM® ⁵⁷ 139600

ICD10 via Orphanet ³³ Q84.2

UMLS via Orphanet ⁷¹ C1841696

Orphanet ⁵⁸ ORPHA2220

MedGen ⁴¹ C4025295

UMLS ⁷⁰ C1841696

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Summaries for Hairy Elbows

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2220 Definition 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 bone, and related phenotypes are generalized hirsutism and micromelia

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 05-Apr-2021)

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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 11)

#	Related Disease	Score
1	wiedemann-steiner syndrome	11.7
2	hypertrichosis	10.5
3	syringomyelia, noncommunicating isolated	10.1
4	scoliosis	10.1
5	ptosis	10.1
6	syringomyelia	10.1
7	precocious puberty	10.1
8	hypotonia	10.1
9	west syndrome	10.0
10	weill-marchesani syndrome	10.0
11	microcephaly	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 ³¹ (show all 33)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	generalized hirsutism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002230
2	micromelia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002983
3	abnormality of the elbow ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0009811
4	severe short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003510
5	rhizomelia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008905
6	abnormality of skin morphology ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011121
7	dysphasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002357
8	facial asymmetry ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000324
9	round face ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000311
10	aphasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002381
11	echolalia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010529
12	mutism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002300
13	intellectual disability ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001249
14	ptosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000508
15	global developmental delay ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001263
16	delayed skeletal maturation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002750
17	microcephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000252
18	thick eyebrow ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000574
19	specific learning disability ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001328
20	downslanted palpebral fissures ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000494
21	joint hyperflexibility ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005692
22	prominent nasal bridge ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000426
23	high forehead ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000348
24	abnormality of the neck ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000464
25	abnormal nasolacrimal system morphology ³¹	occasional (7.5%)		HP:0000614
26	abnormal eyelash morphology ³¹	occasional (7.5%)		HP:0000499
27	abnormal facial shape ³¹	very rare (1%)		HP:0001999
28	short stature ³¹	very rare (1%)		HP:0004322
29	abnormality of the eyelashes ⁵⁸		Occasional (29-5%)
30	abnormality of the face ⁵⁸		Occasional (29-5%)
31	abnormality of the eyelid ⁵⁸		Occasional (29-5%)
32	abnormality of the nasolacrimal system ⁵⁸		Occasional (29-5%)
33	elbow hypertrichosis ³¹			HP:0004780

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Growth:
short stature

Hair:
hypertrichosis limited to elbows

Clinical features from OMIM®:

139600 (Updated 05-Apr-2021)

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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

MalaCards organs/tissues related to Hairy Elbows:

⁴⁰

Bone

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Publications for Hairy Elbows

Articles related to Hairy Elbows:

(show all 41)

#	Title	Authors	PMID	Year
1	Hypertrichosis cubiti: two new cases and a review of the literature. ⁵⁷ ⁶¹	Visser R...De Nef JJ	12558109	2002
2	Hypertrichosis cubiti. ⁶¹ ⁵⁷	Di Lernia V...Patrizi A	8624162	1996
3	Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. ⁵⁷ ⁶¹	MacDermot KD...Winter RM	2738900	1989
4	Hairy elbows. ⁵⁷ ⁶¹	Rudolph RI	4017657	1985
5	Hairy elbows. ⁶¹ ⁵⁷	Andreev VC...Stransky L	453885	1979
6	Familial hypertrichosis cubiti: hairy elbows syndrome. ⁵⁷ ⁶¹	Beighton P	5519603	1970
7	Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. ⁶¹	Sheppard SE...Quintero-Rivera F	33783954	2021
8	Wiedemann-Steiner syndrome: A case report. ⁶¹	Hirst L...Evans R	33768801	2021
9	Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome. ⁶¹	Nardello R...Salpietro V	33387673	2021
10	Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report. ⁶¹	Wang X...Wu W	33325147	2021
11	Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report. ⁶¹	Jinxiu L...Wenyuan D	32311999	2020
12	Wiedemann-Steiner syndrome in two patients from Portugal. ⁶¹	Grangeia A...Moura CP	31710778	2020
13	[Hypertrichosis cubiti in a girl with precocious puberty: Case report]. ⁶¹	Herrero-Morin JD...Molinos Norniella C	30457733	2018
14	Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. ⁶¹	Baer S...Morin G	29574747	2018
15	Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. ⁶¹	Min Ko J...Cho TJ	27777327	2017
16	Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. ⁶¹	Sun Y...Yu Y	27759909	2017
17	Hypertrichosis cubiti, a case report and literature review. ⁶¹	Tng VE...de Zwaan S	26862409	2016
18	Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. ⁶¹	Miyake N...Matsumoto N	25810209	2016
19	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. ⁶¹	Steel D...Kinali M	26690532	2015
20	A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. ⁶¹	Dunkerton S...Goel H	25929198	2015
21	Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome). ⁶¹	Pavone V...Sessa G	27299038	2015
22	De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. ⁶¹	Strom SP...Quintero-Rivera F	24886118	2014
23	Hairy elbows - A case study. ⁶¹	Fernandez-Crehuet P...Serrano JL	24217102	2013
24	De novo mutations in MLL cause Wiedemann-Steiner syndrome. ⁶¹	Jones WD...Simpson MA	22795537	2012
25	Hypertrichosis cubiti: another case of a well-recognized but under-reported entity. ⁶¹	Martinez de Lagran Z...Soloeta-Arechavala R	20609159	2010
26	[Hypertrichosis cubiti (hairy elbows syndrome)]. ⁶¹	Leon-Muinos E...Bermudez E	19726250	2009
27	The hairy elbows syndrome: clinical and neuroradiological findings. ⁶¹	Nardello R...Corsello G	19320141	2008
28	[Two cases of hypertrichosis cubiti]. ⁶¹	Yuste-Chaves M...Bravo-Piris J	18035036	2007
29	A new case of hairy elbows syndrome (hypertrichosis cubiti). ⁶¹	Koc A...Percin EF	18019374	2007
30	Hairy elbows syndrome. ⁶¹	Rosina P...Barba A	16445502	2006
31	Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome. ⁶¹	Polizzi A...Ruggieri M	16355816	2005
32	Primary generalized and localized hypertrichosis in children. ⁶¹	Vashi RA...Paller AS	11453806	2001
33	A sporadic form of hypertrichosis cubiti. ⁶¹	Schwarze HP...Bazex J	10681173	1999
34	Hairy elbows. ⁶¹	Cambiaghi S...Gelmetti C	9585909	1998
35	Hypertrichosis cubiti: a case in a Sri Lankan family. ⁶¹	Lestringant GG...Frossard PM	9159015	1997
36	A new case of hairy elbows syndrome (Hypertrichosis cubiti). ⁶¹	Escalonilla P...Requena L	8844750	1996
37	Hairy elbows. ⁶¹	Miller ML...Yeager JK	7611816	1995
38	Hypertrichosis "cubiti" with facial asymmetry. ⁶¹	Edwards MJ...Wise G	7802037	1994
39	Hairy elbows syndrome (familial hypertrichosis cubiti). ⁶¹	Coleman R...Harper JI	8313649	1994
40	[Hypertrichosis of the elbows]. ⁶¹	Plantin P...Guillet G	8161102	1993
41	Hypertrichosis cubiti. ⁶¹	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	16.15	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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia