Renal hypoplasia

Symptom Information:

Symptom ID: HPO:0000089
Synonyms:
Hypoplastic kidney [HPO:0000089]
Hypoplastic kidneys [HPO:0000089]
Small kidneys [HPO:0000089]
Kidney agenesis [Orphanet:37080]
Renal agenesis (disorder) [Orphanet:37080]
Congenital hypoplasia of kidney (disorder) [Orphanet:37080]
Congenital hypoplasia of kidney [Orphanet:37080]
Congenital absence of kidney [Orphanet:37080]
Congenital absence of kidneys syndrome [Orphanet:37080]
Hypoplastic kidney [OMIM:Hypoplastic kidney]
Hypoplastic kidneys [OMIM:Hypoplastic kidneys]
Renal hypoplasia [OMIM:Renal hypoplasia]
Small kidneys [OMIM:Small kidneys]
Agenesis/hypoplasia/aplasia of kidneys [Orphanet:37080]
Renal agenesis congenital [Orphanet:37080]
Renal aplasia [Orphanet:37080]
Renal agenesis [Orphanet:37080]
Renal hypoplasia [Orphanet:37080]
Renal aplasia [MedDRA:10064655]
Congenital renal dysgenesis [MedDRA:10064655]
Renal agenesis [MedDRA:10064655]
Renal agenesis and dysgenesis [MedDRA:10064655]
Renal agenesis congenital [MedDRA:10064655]
Renal dysgenesis [MedDRA:10064655]
Unilateral renal agenesis [MedDRA:10064655]
Renal hypoplasia [MedDRA:10049102]
Congenital small kidney [MedDRA:10049102]
Hypoplastic kidneys (in 2 of 3 siblings) [OMIM:Hypoplastic kidneys (in 2 of 3 siblings)]
Hypoplastic kidneys (in some patients) [OMIM:Hypoplastic kidneys (in some patients)]
Renal agenesis (in some patients) [OMIM:Renal agenesis (in some patients)]
Renal agenesis, unilateral [OMIM:Renal agenesis, unilateral]
Renal agenesis, unilateral (1 patient) [OMIM:Renal agenesis, unilateral (1 patient)]
Renal agenesis, unilateral (in some patients) [OMIM:Renal agenesis, unilateral (in some patients)]
Renal agenesis/dysgenesis [OMIM:Renal agenesis/dysgenesis]
Renal aplasia (less common) [OMIM:Renal aplasia (less common)]
Renal hypoplasia (1 patient) [OMIM:Renal hypoplasia (1 patient)]
Renal hypoplasia (less common) [OMIM:Renal hypoplasia (less common)]
Renal hypoplasia (rare) [OMIM:Renal hypoplasia (rare)]
Small kidney [OMIM:Small kidney]
Small kidney (rare) [OMIM:Small kidney (rare)]
Small kidney (reported in 1 patient) [OMIM:Small kidney (reported in 1 patient)]
Kidney small [MedDRA:10023435]
Quality:
Cross references:
HPO:0000104 "Renal agenesis" [Orphanet:37080]
HPO:0010958 "Bilateral renal agenesis" [Orphanet:37080]
Orphanet:37080 "Agenesis/hypoplasia/aplasia of kidneys" [Orphanet:37080]
OMIM: "Hypoplastic kidney" [OMIM:Hypoplastic kidney]
OMIM: "Hypoplastic kidneys" [OMIM:Hypoplastic kidneys]
OMIM: "Renal hypoplasia" [OMIM:Renal hypoplasia]
OMIM: "Small kidneys" [OMIM:Small kidneys]
OMIM: "Hypoplastic kidneys (in 2 of 3 siblings)" [OMIM:Hypoplastic kidneys (in 2 of 3 siblings)]
OMIM: "Hypoplastic kidneys (in some patients)" [OMIM:Hypoplastic kidneys (in some patients)]
OMIM: "Renal agenesis (in some patients)" [OMIM:Renal agenesis (in some patients)]
OMIM: "Renal agenesis, unilateral" [OMIM:Renal agenesis, unilateral]
OMIM: "Renal agenesis, unilateral (1 patient)" [OMIM:Renal agenesis, unilateral (1 patient)]
OMIM: "Renal agenesis, unilateral (in some patients)" [OMIM:Renal agenesis, unilateral (in some patients)]
OMIM: "Renal agenesis/dysgenesis" [OMIM:Renal agenesis/dysgenesis]
OMIM: "Renal aplasia (less common)" [OMIM:Renal aplasia (less common)]
OMIM: "Renal hypoplasia (1 patient)" [OMIM:Renal hypoplasia (1 patient)]
OMIM: "Renal hypoplasia (less common)" [OMIM:Renal hypoplasia (less common)]
OMIM: "Renal hypoplasia (rare)" [OMIM:Renal hypoplasia (rare)]
OMIM: "Small kidney" [OMIM:Small kidney]
OMIM: "Small kidney (rare)" [OMIM:Small kidney (rare)]
OMIM: "Small kidney (reported in 1 patient)" [OMIM:Small kidney (reported in 1 patient)]
UMLS:C0266295 "Congenital hypoplasia of kidney" [Orphanet:37080]
UMLS:C0542519 "Congenital absence of kidney" [Orphanet:37080]
UMLS:C1609433 "Congenital absence of kidneys syndrome" [Orphanet:37080]
Is a (Direct Parents):
HPO         Renal hypoplasia/aplasia
MedDRA Renal structural abnormalities and trauma
MedDRA Renal disorders NEC
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the urinary system(HPO:0000079)
             Abnormality of the upper urinary tract(HPO:0010935)
                Abnormality of the kidney(HPO:0000077)
                   Abnormal renal morphology(HPO:0012210)
                      Renal hypoplasia/aplasia(HPO:0008678)
                         Renal hypoplasia(HPO:0000089)
MedDRA:
Renal and urinary disorders(MedDRA:10038359)
    Nephropathy(HPO:0000112)
       Renal structural abnormalities and trauma(MedDRA:10038529)
          Renal hypoplasia(HPO:0000089)
       Renal disorders NEC(MedDRA:10027695)
          Renal hypoplasia(HPO:0000089)
Database Frequency: 78 / 7739
Resource:

All diseases associated with this symptom:

17q12 microdeletion syndrome (Orphanet:261265)
ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE (OMIM:201310)
Acro-renal-ocular syndrome (Orphanet:959)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia (Orphanet:34149)
Autosomal recessive deafness-onychodystrophy syndrome (Orphanet:79500)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION (OMIM:601389)
CHARGE syndrome (Orphanet:138)
CHROMOSOME 1p32-p31 DELETION SYNDROME (OMIM:613735)
COFFIN-SIRIS SYNDROME (OMIM:135900)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Carpenter-Waziri syndrome (Orphanet:93973)
Cenani-Lenz syndrome (Orphanet:3258)
Cerebro-facio-articular syndrome (Orphanet:314679)
Choanal atresia - deafness - cardiac defects - dysmorphism (Orphanet:1200)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Coffin-Siris syndrome (Orphanet:1465)
Cornelia de Lange syndrome (Orphanet:199)
DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE (OMIM:612666)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type (Orphanet:363444)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Emanuel syndrome (Orphanet:96170)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 (OMIM:616002)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Fraser syndrome (Orphanet:2052)
HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA (OMIM:236500)
Holmes-Gang syndrome (Orphanet:93970)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Holzgreve-Wagner-Rehder syndrome (Orphanet:2167)
Hyperuricemia - anemia - renal failure (Orphanet:217330)
Hypoparathyroidism - deafness - renal disease (Orphanet:2237)
Joubert syndrome 22 (OMIM:615665)
Juberg-Marsidi syndrome (Orphanet:93972)
MEDULLARY CYSTIC KIDNEY DISEASE 1 (OMIM:174000)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MUNGAN SYNDROME (OMIM:611376)
Marden-Walker syndrome (Orphanet:2461)
Matthew-Wood syndrome (Orphanet:2470)
Meckel syndrome, type 12 (OMIM:616258)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Multicystic renal dysplasia (Orphanet:1851)
Nephronophthisis 1 (OMIM:256100)
Nephronophthisis 13 (OMIM:614377)
Nephronophthisis 2 (OMIM:602088)
Nephronophthisis 3 (OMIM:604387)
Okihiro syndrome (Orphanet:93293)
Pallister-Hall syndrome (Orphanet:672)
RENAL AND MULLERIAN DUCT HYPOPLASIA (OMIM:266810)
Renal coloboma syndrome (Orphanet:1475)
Renal cysts and diabetes syndrome (Orphanet:93111)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Renpenning syndrome (Orphanet:3242)
Scalp-ear-nipple syndrome (Orphanet:2036)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Short-rib thoracic dysplasia 13 with or without polydactyly (OMIM:616300)
Short-rib thoracic dysplasia 5 with or without polydactyly (OMIM:614376)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Thymic-renal-anal-lung dysplasia (Orphanet:3326)
Townes-Brocks syndrome (Orphanet:857)
Ulbright-Hodes syndrome (Orphanet:3404)
VACTERL ASSOCIATION WITH HYDROCEPHALUS (OMIM:276950)
VACTERL with hydrocephalus (Orphanet:3412)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
VERHEIJ SYNDROME (OMIM:615583)
VESICOURETERAL REFLUX 2 (OMIM:610878)
Williams syndrome (Orphanet:904)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)