Obesity, and Renal cyst

Diseases related with Obesity and Renal cyst

In the following list you will find some of the most common rare diseases related to Obesity and Renal cyst that can help you solving undiagnosed cases.


Top matches:

Medium match BARDET-BIEDL SYNDROME 10; BBS10


BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Renal insufficiency
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 10; BBS10

Medium match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low match BARDET-BIEDL SYNDROME 6; BBS6


BBS6 is an autosomal recessive disorder with cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation (Slavotinek et al., 2000). Zaghloul and Katsanis (2009) estimated that mutations in the MKKS gene account for 5.8% of the total BBS mutational load.For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Intellectual disability, mild
  • Syndactyly
  • Obesity
  • Hypospadias


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 6; BBS6

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Other less relevant matches:

Low match RENAL CELL CARCINOMA, NONPAPILLARY; RCC


The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see {605074}) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma.Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by Motzer et al., 1996). Genetic Heterogeneity of Renal Cell CarcinomaGermline mutation resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type occurs in the HNF1A gene (OMIM ) and the HNF1B gene (OMIM ).Somatic mutations in renal cell carcinomas occur in the VHL gene (OMIM ), the TRC8 gene (OMIM ), the OGG1 gene (OMIM ), the ARMET gene (OMIM ), the FLCN gene (OMIM ), and the BAP1 gene (OMIM ).See also RCCX1 (OMIM ) for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene (OMIM ).For a discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ). Occurrence of Renal Cell Carcinoma in Other DisordersVon Hippel-Lindau syndrome (OMIM ) is a familial multicancer syndrome in which there is a susceptibility to a variety of neoplasms, including renal cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma has been reported (OMIM ). Medullary carcinoma of the kidney is believed to arise from the collecting ducts of the renal medulla and is associated with sickle cell trait (OMIM ) (Kovacs et al., 1997). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome (OMIM ).Bertolotto et al. (2011) identified a missense mutation in the MITF (OMIM ) gene that increases the risk of renal cell carcinoma with or without malignant melanoma (CMM8 ).

RENAL CELL CARCINOMA, NONPAPILLARY; RCC Is also known as hypernephroma|adenocarcinoma of kidney

Related symptoms:

  • Neoplasm
  • Hypertension
  • Obesity
  • Carcinoma
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CELL CARCINOMA, NONPAPILLARY; RCC

Low match BARDET-BIEDL SYNDROME 16; BBS16


BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 16; BBS16

Low match BARDET-BIEDL SYNDROME 17; BBS17


BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Low match MCKUSICK-KAUFMAN SYNDROME; MKKS


McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome|kaufman-mckusick syndrome|hmcs|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Related symptoms:

  • Cryptorchidism
  • Abnormality of the skeletal system
  • Respiratory distress
  • Edema
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

Low match BARDET-BIEDL SYNDROME


Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about BARDET-BIEDL SYNDROME

Low match SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2


An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Top 5 symptoms//phenotypes associated to Obesity and Renal cyst

Symptoms // Phenotype % cases
Rod-cone dystrophy Common - Between 50% and 80% cases
Polydactyly Common - Between 50% and 80% cases
Hypogonadism Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Obesity and Renal cyst. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay External genital hypoplasia Postaxial polydactyly Renal dysplasia Renal insufficiency Cone/cone-rod dystrophy Syndactyly Micropenis Cryptorchidism Retinal degeneration

Rare Symptoms - Less than 30% cases


Hydrometrocolpos Hypertension Congenital hip dislocation Short stature Respiratory tract infection Hearing impairment Respiratory distress Stage 5 chronic kidney disease Multicystic kidney dysplasia Short neck Postaxial hand polydactyly Vaginal atresia Macular dystrophy Clinodactyly Reduced visual acuity Anosmia Brachydactyly Hypospadias Retinal dystrophy Polycystic kidney dysplasia Prominent nasal bridge Lymphedema Skeletal muscle atrophy Downslanted palpebral fissures U-Shaped upper lip vermilion Low-set, posteriorly rotated ears Aganglionic megacolon Neurological speech impairment Hydrocolpos Finger syndactyly Pigmentary retinopathy Hypoplasia of penis Nephrotic syndrome Hepatic fibrosis Nystagmus Pelvic mass Tracheoesophageal fistula Vesicovaginal fistula Hydrops fetalis Prominent scrotal raphe Abnormality of the rib cage Mesoaxial hand polydactyly Transverse vaginal septum Penoscrotal hypospadias Abnormal vertebral morphology Chordee Rectovaginal fistula Nonimmune hydrops fetalis Edema of the lower limbs Esophageal atresia Hydroureter Generalized hirsutism Medial flaring of the eyebrow Abnormal electroretinogram Tapered finger Coarse facial features Thin upper lip vermilion Wide mouth Dolichocephaly Wide nose Single transverse palmar crease Wide intermamillary distance Pneumonia Small nail Broad thumb Intellectual disability, progressive Recurrent upper respiratory tract infections Deep philtrum Radial deviation of finger Broad palm Posteriorly rotated ears Hyperactive deep tendon reflexes Hypoplasia of the ovary High palate Short finger Generalized hypotonia Hypertelorism Abnormal facial shape Muscular hypotonia Cleft palate Low-set ears Epicanthus Scaphocephaly Macrocephaly Talipes equinovarus Anteverted nares Choanal atresia Thickened nuchal skin fold Short nose Inguinal hernia Intellectual disability, severe Distal lower limb amyotrophy Primary amenorrhea Abnormality of the liver Clear cell renal cell carcinoma Small cell lung carcinoma Cerebellar hemangioblastoma Hemangioblastoma Recurrent respiratory infections Conductive hearing impairment Hepatic steatosis Fibrosarcoma Asthma Renal agenesis Recurrent otitis media Tricuspid regurgitation Bronchiolitis Situs inversus totalis Polydipsia Burkitt lymphoma Papillary renal cell carcinoma Foot polydactyly Neoplasm Blindness Abnormality of the dentition Nyctalopia Intellectual disability, mild Diabetes mellitus Photophobia Carcinoma Retinoblastoma Falls Lymphoma Melanoma Nephroblastoma Polycythemia Renal cell carcinoma Renal neoplasm Polyuria Postaxial foot polydactyly Tetralogy of Fallot Hyperesthesia Urinary urgency Lower limb hyperreflexia Ankle clonus Distal lower limb muscle weakness Cystic renal dysplasia Lower limb hypertonia Abnormality of the skeletal system Impaired vibratory sensation Edema Abnormality of cardiovascular system morphology Hydronephrosis Anal atresia Pulmonary hypoplasia Abdominal distention Amenorrhea Toe walking Spastic gait Undetectable electroretinogram Motor delay Hyposmia Bilateral postaxial polydactyly Mesoaxial polydactyly Y-shaped metacarpals Ataxia Growth delay Cataract Peripheral neuropathy Lower limb spasticity Dysarthria Gait disturbance Babinski sign Rigidity Abnormality of the kidney Bradykinesia Frequent falls Facial capillary hemangioma



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