Traits

Traits linked to MAP3K1

mitogen-activated protein kinase kinase kinase 1

The Human Phenotype Ontology links 51 traits to MAP3K1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Gonadal dysgenesis	Always
Abnormal internal genitalia	Very often (80–99%)
Abnormal labia morphology	Very often (80–99%)
Abnormal scrotum morphology	Very often (80–99%)
Abnormal sex determination	Very often (80–99%)
Abnormal vagina morphology	Very often (80–99%)
Absent sperm in semen	Very often (80–99%)
Ambiguous external genitalia	Very often (80–99%)
Decreased fertility in females	Very often (80–99%)
Decreased testicular size	Very often (80–99%)
Dysplastic testis	Very often (80–99%)
Enlarged clitoris	Very often (80–99%)
Female external genitalia in individual with 46,XY karyotype	Very often (80–99%)
Hypospadias	Very often (80–99%)
Male infertility	Very often (80–99%)
Male pseudohermaphroditism	Very often (80–99%)
Polycystic ovaries	Very often (80–99%)
Primary amenorrhea	Very often (80–99%)
Short penis	Very often (80–99%)
Streak ovary	Very often (80–99%)
Underdeveloped penis	Very often (80–99%)
Underdeveloped vagina	Very often (80–99%)
Urogenital sinus anomaly	Very often (80–99%)
Vanishing testis	Very often (80–99%)
Gonadoblastoma	Often (30–79%)
Sex reversal	Often (30–79%)
Undescended testes	Often (30–79%)
Dysgerminoma	Sometimes (5–29%)
Ovarian gonadoblastoma	Sometimes (5–29%)
Testicular gonadoblastoma	Sometimes (5–29%)
Nephroblastoma	Rarely (1–4%)
Nephrotic syndrome	Rarely (1–4%)
Chordee	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased serum estradiol	Very often (80–99%)
Decreased serum testosterone level	Very often (80–99%)
Elevated circulating follicle stimulating hormone level	Very often (80–99%)
Elevated circulating luteinizing hormone level	Very often (80–99%)
Hypergonadotropic hypogonadism	Very often (80–99%)
Hypogonadotropic hypogonadism	Very often (80–99%)
Increased circulating gonadotropin level	Very often (80–99%)
Delayed puberty	Often (30–79%)
Absence of secondary sex characteristics	Sometimes (5–29%)
Adrenal insufficiency	Sometimes (5–29%)
Primary gonadal insufficiency	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Limited armpit hair	Very often (80–99%)
Sparse pubic hair	Very often (80–99%)
Excessive hairiness	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteoporosis	Very often (80–99%)
Delayed bone maturation	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Rarely (1–4%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MAP3K1 and how often each is seen. Find out more at hpo.jax.org.

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