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Hypotrichosis simplex
7 OMIM references -
6 associated genes
56 connected diseases
12 signs/symptoms
Disease Type of connection
Woolly hair
Monilethrix
Blackfan-Diamond anemia
Fibronectin glomerulopathy
Amyotrophic lateral sclerosis
Cabezas syndrome
Pseudohypoaldosteronism type 2E
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pyogenic arthritis - pyoderma gangrenosum - acne
Chuvash erythrocytosis
Von Hippel-Lindau disease
Young adult-onset Parkinsonism
Estrogen resistance syndrome
Adrenocortical carcinoma
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
B-cell chronic lymphocytic leukemia
Combined immunodeficiency due to STK4 deficiency
Costello syndrome
Dedifferentiated liposarcoma
Essential thrombocythemia
Familial pancreatic carcinoma
Frontotemporal dementia with motor neuron disease
Giant cell glioblastoma
Gliosarcoma
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Li-Fraumeni syndrome
Linear nevus sebaceus syndrome
Papilloma of choroid plexus
Pelizaeus-Merzbacher-like due to AIMP1 mutation
Phakomatosis pigmentokeratotica
Precursor B-cell acute lymphoblastic leukemia
Richieri Costa-Pereira syndrome
Spinocerebellar ataxia type 36
Well-differentiated liposarcoma
Retinitis pigmentosa
Spinocerebellar ataxia type 12
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated congenital asplenia
Familial isolated dilated cardiomyopathy
Hepatocellular carcinoma, childhood-onset
Lethal acantholytic epidermolysis bullosa
Naxos disease
Omenn syndrome
Pilomatrixoma
Spinocerebellar ataxia type 26
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Synonym(s):
- Hereditary hypotrichosis simplex
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
7 OMIM references -
1 MeSH reference: C537160
Very frequent
- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Alopecia
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Decreased body hair / axillar / pubic hairlessness
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness

Frequent
- Lanugo
- Woolly / frizzy hair

Occasional
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Pruritus / itching