Abnormal facial shape, and Hypertension

Diseases related with Abnormal facial shape and Hypertension

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Hypertension that can help you solving undiagnosed cases.


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Low match HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY


The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.

HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY Is also known as pigm-cdg|congenital disorder of glycosylation due to pigm deficiency|glycosylphosphatidylinositol biosynthesis defect 1|gpibd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Abnormal facial shape
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY

Low match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2


ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013).

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2 Is also known as primary macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Hypertension
  • Depressivity
  • Osteoporosis
  • Round face


SOURCES: OMIM MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2

Low match POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2


Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.

POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2 Is also known as polycystic kidney disease, adult, type ii|apkd2

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Midface retrusion
  • Respiratory failure
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2

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Other less relevant matches:

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2


PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Is also known as cushing syndrome, adrenal, due to ppnad2|pigmented micronodular adrenocortical disease, primary, 2

Related symptoms:

  • Hypertension
  • Kyphosis
  • Depressivity
  • Osteoporosis
  • Osteopenia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2

Low match FAMILIAL ISOLATED PITUITARY ADENOMA


Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem. Genetic Heterogeneity of Pituitary AdenomasAlso see pituitary adenoma-2 (PITA2 ), caused by mutation in the GPR101 gene (OMIM ); pituitary adenoma-3 (PITA3 ), caused by somatic activating mutations in the GNAS1 gene (OMIM ); pituitary adenoma-4 (PITA4 ), caused by somatic mutation in the USP8 gene (OMIM ); and pituitary adenoma-5 (PITA5 ), caused by mutation in the CDH23 gene (OMIM ).Patients with the chromosome Xq26.3 microduplication syndrome (OMIM ) have growth hormone-secreting adenomas.Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1 ), Carney complex (CNC1 ), and the McCune-Albright syndrome (OMIM ).Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG ) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.

FAMILIAL ISOLATED PITUITARY ADENOMA Is also known as somatotropinoma, familial isolated|pagh1|somatotrophinoma, familial|ifs|isolated familial somatotropinoma|fipa|acromegaly due to pituitary adenoma 1|fis

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Cardiomyopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED PITUITARY ADENOMA

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4


Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4 Is also known as chromosome 19p13 duplication syndrome|cushing syndrome, adrenal, due to ppnad4

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Obesity
  • Depressivity
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4

Low match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1


Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical DiseaseSee also PPNAD2 (OMIM ), caused by mutation in the PDE11A gene (OMIM ) on chromosome 2q31; PPNAD3 (OMIM ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13; and PPNAD4 (OMIM ), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (OMIM ).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Is also known as pigmented micronodular adrenocortical disease, primary, 1|cushing syndrome, adrenal, due to ppnad1|adrenocortical nodular dysplasia, primary

Related symptoms:

  • Neoplasm
  • Hypertension
  • Kyphosis
  • Obesity
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

Low match UROFACIAL SYNDROME 1; UFS1


The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

Low match ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS


ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS Is also known as scott-taor syndrome|sps|ischiopatellar dysplasia|patella aplasia, coxa vara, and tarsal synostosis|small patella syndrome|coxopodopatellar syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Hypertension

Symptoms // Phenotype % cases
Depressivity Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Increased circulating cortisol level Uncommon - Between 30% and 50% cases
Bruising susceptibility Uncommon - Between 30% and 50% cases
Adrenal hyperplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Hypertension. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Moon facies Obesity Abdominal obesity Primary hypercortisolism Neoplasm Osteopenia Round face Renal insufficiency

Rare Symptoms - Less than 30% cases


Anxiety Mental deterioration Psychosis Thin skin Agitation Intellectual disability Truncal obesity Striae distensae Recurrent urinary tract infections Decreased circulating ACTH level Pigmented micronodular adrenocortical disease Paradoxical increased cortisol secretion on dexamethasone suppression test Cardiomyopathy Dorsocervical fat pad Dilatation Kyphosis Mood changes Nephropathy Hematuria Macronodular adrenal hyperplasia Stage 5 chronic kidney disease Hydronephrosis Proteinuria Sepsis Vesicoureteral reflux Urinary incontinence Carious teeth Fever Polydipsia Clubbing Keratitis Polyuria Hydroureter Acute kidney injury Keratoconjunctivitis sicca Dysuria Constipation Adrenocortical carcinoma Cryptorchidism Renal artery stenosis Cutaneous finger syndactyly Perimembranous ventricular septal defect Gastritis Arterial stenosis Intellectual disability, borderline Coronary artery stenosis Renovascular hypertension Talocalcaneal synostosis Carotid artery stenosis Cerebral cortical atrophy Hypoplasia of the lesser trochanter Carcinoma Hypertrichosis Flat capital femoral epiphysis Iliac horns Neurogenic bladder Enuresis Hip dysplasia Tarsal synostosis Sandal gap Coxa vara Short chin Abnormality of epiphysis morphology Pulmonary arterial hypertension Short stature Patellar dislocation Scoliosis Micrognathia Cleft palate High palate Abnormality of the skeletal system Prominent forehead Bicuspid aortic valve Short femur Wolff-Parkinson-White syndrome Enuresis nocturna Pes planus Urinary retention Pyelonephritis Facial grimacing Urethral stenosis Mild proteinuria Urethral obstruction Patellar aplasia Urethral valve Encopresis Aplasia/Hypoplasia of the patella Abnormal facial expression Patellar hypoplasia Nocturnal lagophthalmos Increased susceptibility to fractures Hypertelorism Cutaneous syndactyly Multiple glomerular cysts Multicystic kidney dysplasia Polycystic kidney dysplasia Dextrocardia Elevated serum creatinine Hepatic cysts Renal cortical cysts Fatigue Oligohydramnios Headache Coarse facial features Epidermal acanthosis Left ventricular hypertrophy Acanthosis nigricans Growth hormone excess Situs inversus totalis Renal cyst Pituitary adenoma Atonic seizures Hepatomegaly Splenomegaly Bone marrow hypocellularity Absence seizures Venous thrombosis Portal hypertension Hemoglobinuria Facial asymmetry Portal vein thrombosis Paroxysmal nocturnal hemoglobinuria Hyperglycemia Midface retrusion Respiratory failure Abnormality of the kidney Prolactin excess Neoplasm of the endocrine system Aortic regurgitation Abnormal heart morphology Failure to thrive Brachydactyly Ventricular septal defect Syndactyly Clinodactyly Patent ductus arteriosus Abdominal pain Adrenocortical adenoma Pulmonic stenosis Short palm Recurrent fractures Specific learning disability Decreased body weight Finger clinodactyly Seizures Ecchymosis Menstrual irregularities Alopecia Galactorrhea Pituitary prolactin cell adenoma Pituitary growth hormone cell adenoma Prolactinoma Increased serum insulin-like growth factor 1 Muscle weakness Diabetes mellitus Fragile skin Proximal muscle weakness Hirsutism Increased body weight Acne Emotional lability Glucose intolerance Wide capital femoral epiphyses



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