ORPHA:55654

Hypotrichosis simplex

Synonyms: Hereditary hypotrichosis simplex

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive
Age of onset: Childhood
Status: active

Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hypotrichosis simplex	Hereditary hypotrichosis simplex
fr	Hypotrichose simple	Hypotrichose héréditaire simple
de	Hypotrichosis simplex	Hypotrichosis simplex, hereditäre
es	Hipotricosis simple	Hipotricosis hereditaria simple
it	Ipotricosi semplice	Ipotricosi semplice ereditaria
nl	Hypotrichosis simplex	Erfelijke hypotrichose simplex
pt	Hipotricose simples
pl	Hipotrichoza prosta	Dziedziczna hipotrichoza prosta
cs	Hypotrichosis simplex	Hereditární hypotrichosis simplex
uk	Простий гіпотрихоз	Спадковий гіпотрихоз простий
zh	单纯性少毛症	遗传性单纯性少毛症
tr	Hipotrikoz simpleks	Kalıtsal hipotrikoz simpleks

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	278150	BTNT		validated
OMIM	604379	BTNT		validated
OMIM	605389	E		validated
OMIM	607903	BTNT		validated
OMIM	614237	BTNT		validated
OMIM	614238	BTNT		validated
OMIM	615059	BTNT		validated
OMIM	615885	BTNT		validated
OMIM	618275	BTNT		validated
OMIM	620177	BTNT		validated
ICD-10	L65.8	NTBT	attributed	validated
ICD-11	EC21.2	NTBT	index	validated
MONDO	0018914	E		validated
MeSH	C537160	E		validated
UMLS	C1854310	E		validated
GARD	9170	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:89826Rare skin disease

Parents in the classifications (2):

ORPHA:79364Alopecia
rare skin diseases
ORPHA:481771Genetic alopecia
rare genetic diseases

No children.

Genes

7 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
APCDD1	Disease-causing germline mutation(s) in	Assessed	HGNC:15718	ENSG00000154856	607479	18p11.22	APC down-regulated 1	20393562[PMID]
DSG4	Disease-causing germline mutation(s) in	Assessed	HGNC:21307	ENSG00000175065	607892	18q12.1	desmoglein 4	16770573[PMID]
LIPH	Disease-causing germline mutation(s) in	Assessed	HGNC:18483	ENSG00000163898	607365	3q27.2	lipase H	18445047[PMID]
LPAR6	Disease-causing germline mutation(s) in	Assessed	HGNC:15520	ENSG00000139679	609239	13q14.2	lysophosphatidic acid receptor 6	18461368[PMID]
LSS	Disease-causing germline mutation(s) in	Assessed	HGNC:6708	ENSG00000160285	600909	21q22.3	lanosterol synthase	30401459[PMID]
RPL21	Disease-causing germline mutation(s) in	Assessed	HGNC:10313	ENSG00000122026	603636	13q12.2	ribosomal protein L21	21412954[PMID]
SNRPE	Disease-causing germline mutation(s) in	Assessed	HGNC:11161	ENSG00000182004	128260	1q32.1	small nuclear ribonucleoprotein polypeptide E	23246290[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		38 cases	Worldwide	Case(s)	Validated	ORPHANET
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

6 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001596	Alopecia
HP:0002231	Sparse body hair
HP:0045075	Sparse eyebrow
HP:0000653	Sparse eyelashes
HP:0002209	Sparse scalp hair
Frequent (79-30%)
HP:0008070	Sparse hair

Run the differential on the 5 obligate / very frequent terms

Annotation source: 20393562[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/55654
This record as JSON: /data/d/55654.json