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.
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|gpibd1Related symptoms:
- Intellectual disability
- Abnormal facial shape
More info about HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
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 hyperplasiaRelated symptoms:
- Round face
More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2
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|apkd2Related symptoms:
- Renal insufficiency
- Midface retrusion
- Respiratory failure
- Abnormality of the kidney
More info about POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2
Other less relevant matches:
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Is also known as cushing syndrome, adrenal, due to ppnad2|pigmented micronodular adrenocortical disease, primary, 2Related symptoms:
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.
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|fisRelated symptoms:
More info about FAMILIAL ISOLATED PITUITARY ADENOMA
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 ppnad4Related symptoms:
- Muscle weakness
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 syndromeRelated symptoms:
- Intellectual disability
- Failure to thrive
- Abnormal facial shape
More info about GRANGE SYNDROME
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).
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, primaryRelated symptoms:
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).
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|ufsRelated symptoms:
- Abnormal facial shape
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 syndromeRelated symptoms:
- Short stature
- Abnormal facial shape
- Cleft palate
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|
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% casesPain Moon facies Obesity Abdominal obesity Primary hypercortisolism Neoplasm Osteopenia Round face Renal insufficiency
Rare Symptoms - Less than 30% casesAnxiety 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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