Primary amenorrhea

Symptom Information:

Symptom ID: HPO:0000786
Synonyms:
Primary physiologic amenorrhea (finding) [Orphanet:41840]
Primary physiologic amenorrhea [Orphanet:41840]
Primary amenorrhea [OMIM:Primary amenorrhea]
Primary amenorrhea [Orphanet:41840]
Amenorrhea primary [Orphanet:41840]
Amenorrhoea [MedDRA:10001928]
Absence of menstruation [MedDRA:10001928]
Amenorrhea [MedDRA:10001928]
Amenorrhoea NOS [MedDRA:10001928]
Amenorrhoea post pill [MedDRA:10001928]
Amenorrhoea primary [MedDRA:10001928]
Amenorrhoea secondary [MedDRA:10001928]
Menses lack of [MedDRA:10001928]
Post pill amenorrhoea [MedDRA:10001928]
Primary amenorrhoea [MedDRA:10001928]
Secondary amenorrhoea [MedDRA:10001928]
Secondary amenorrhoea (excl pregnancy) [MedDRA:10001928]
Amenorrhea post pill [MedDRA:10001928]
Amenorrhea primary [MedDRA:10001928]
Amenorrhea secondary [MedDRA:10001928]
Amenorrhea, primary [OMIM:Amenorrhea, primary]
Primary amenorrhea (in a subset of patients) [OMIM:Primary amenorrhea (in a subset of patients)]
Primary amenorrhea (in some patients) [OMIM:Primary amenorrhea (in some patients)]
Secondary amenorrhea (in a subset of patients) [OMIM:Secondary amenorrhea (in a subset of patients)]
Quality:
Cross references:
Orphanet:41840 "Primary amenorrhea" [Orphanet:41840]
OMIM: "Primary amenorrhea" [OMIM:Primary amenorrhea]
OMIM: "Amenorrhea, primary" [OMIM:Amenorrhea, primary]
OMIM: "Primary amenorrhea (in a subset of patients)" [OMIM:Primary amenorrhea (in a subset of patients)]
OMIM: "Primary amenorrhea (in some patients)" [OMIM:Primary amenorrhea (in some patients)]
OMIM: "Secondary amenorrhea (in a subset of patients)" [OMIM:Secondary amenorrhea (in a subset of patients)]
UMLS:C0232939 "Primary physiologic amenorrhea" [Orphanet:41840]
Is a (Direct Parents):
HPO         Amenorrhea
MedDRA Menstruation with decreased bleeding
Orphanet Abnormality of the endocrine system
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the genital system(HPO:0000078)
             Abnormal genital system morphology(HPO:0012243)
                Abnormality of the female genitalia(HPO:0010460)
                   Abnormality of female internal genitalia(HPO:0000008)
                      Abnormality of the menstrual cycle(HPO:0000140)
                         Amenorrhea(HPO:0000141)
                            Primary amenorrhea(HPO:0000786)
                Abnormal internal genitalia(HPO:0000812)
                   Abnormality of female internal genitalia(HPO:0000008)
                      Abnormality of the menstrual cycle(HPO:0000140)
                         Amenorrhea(HPO:0000141)
                            Primary amenorrhea(HPO:0000786)
       Abnormality of the endocrine system(HPO:0000818)
          Puberty and gonadal disorders(HPO:0008373)
             Abnormality of the menstrual cycle(HPO:0000140)
                Amenorrhea(HPO:0000141)
                   Primary amenorrhea(HPO:0000786)
MedDRA:
Reproductive system and breast disorders(MedDRA:10038604)
    Menstrual cycle and uterine bleeding disorders(MedDRA:10013326)
       Menstruation with decreased bleeding(MedDRA:10027341)
          Primary amenorrhea(HPO:0000786)
Database Frequency: 61 / 7739
Resource:

All diseases associated with this symptom:

46,XX disorder of sex development - skeletal anomalies (Orphanet:2975)
46,XX gonadal dysgenesis (Orphanet:243)
46,XY SEX REVERSAL 1 (OMIM:400044)
46,XY SEX REVERSAL 7 (OMIM:233420)
46,XY complete gonadal dysgenesis (Orphanet:242)
Aromatase deficiency (Orphanet:91)
Atypical Mayer-Rokitansky-Küster-Hauser syndrome (Orphanet:247768)
Autosomal dominant progressive external ophthalmoplegia (Orphanet:254892)
Bilateral renal agenesis (Orphanet:1848)
CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES (OMIM:609441)
Classic Mayer-Rokitansky-Küster-Hauser syndrome (Orphanet:247775)
Complete androgen insensitivity syndrome (Orphanet:99429)
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (Orphanet:90793)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Cornelia de Lange syndrome (Orphanet:199)
Deafness - enamel hypoplasia - nail defects (Orphanet:3220)
ESTROGEN RESISTANCE (OMIM:615363)
Familial partial lipodystrophy associated with PPARG mutations (Orphanet:79083)
Frasier syndrome (Orphanet:347)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA (OMIM:614839)
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA (OMIM:614840)
HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA (OMIM:614841)
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA (OMIM:614858)
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA (OMIM:614897)
HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA (OMIM:610628)
HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Hemochromatosis, type 2A (OMIM:602390)
Insulin-resistance syndrome type A (Orphanet:2297)
Isolated follicle stimulating hormone deficiency (Orphanet:52901)
Kallmann syndrome (Orphanet:478)
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM (OMIM:616033)
Microcephalic primordial dwarfism, Dauber type (Orphanet:319675)
Mulibrey nanism (Orphanet:2576)
Normosmic congenital hypogonadotropic hypogonadism (Orphanet:432)
OVARIAN DYSGENESIS 1 (OMIM:233300)
OVARIAN DYSGENESIS 2 (OMIM:300510)
OVARIAN DYSGENESIS 3 (OMIM:614324)
OVARIAN DYSGENESIS 4 (OMIM:616185)
Obesity due to congenital leptin deficiency (Orphanet:66628)
Obesity due to prohormone convertase I deficiency (Orphanet:71528)
PREMATURE OVARIAN FAILURE 10 (OMIM:612885)
PREMATURE OVARIAN FAILURE 2B (OMIM:300604)
PREMATURE OVARIAN FAILURE 5 (OMIM:611548)
PREMATURE OVARIAN FAILURE 8 (OMIM:615723)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 (OMIM:157640)
Perrault Syndrome (Orphanet:2855)
Perrault Syndrome 1 (OMIM:233400)
Perrault Syndrome 2 (OMIM:614926)
Perrault Syndrome 3 (OMIM:614129)
Perrault Syndrome 4 (OMIM:615300)
Perrault Syndrome 5 (OMIM:616138)
Pituitary stalk interruption syndrome (Orphanet:95496)
Prader-Willi syndrome (Orphanet:739)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Richards-Rundle syndrome (Orphanet:1399)
Wolfram syndrome 2 (OMIM:604928)