Abnormal facial shape, and Depressivity

Diseases related with Abnormal facial shape and Depressivity

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


Top matches:

Medium 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

Medium match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27


CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

Medium 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

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Other less relevant matches:

Medium 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

Medium 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

Medium match EXOSTOSES, MULTIPLE, TYPE I


Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989).Two conditions in which multiple exostoses occur are metachondromatosis (OMIM ) and the Langer-Giedion syndrome (LGS ); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP ), occipital horn syndrome (OMIM ), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985).

EXOSTOSES, MULTIPLE, TYPE I Is also known as multiple cartilaginous exostoses|ext1|multiple osteochondromas|diaphyseal aclasis|ext|osteochondromatosis

Related symptoms:

  • Short stature
  • Neoplasm
  • Depressivity
  • Abnormality of the foot
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about EXOSTOSES, MULTIPLE, TYPE I

Medium 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

Medium match MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA


MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

Medium match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH


Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Medium match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Adrenal hyperplasia Obesity Psychosis Primary hypercortisolism Moon facies Osteopenia Round face Low-set ears Abdominal obesity

Rare Symptoms - Less than 30% cases


Decreased circulating ACTH level Cleft palate Thin skin Agitation Truncal obesity Striae distensae Short stature Mood changes Alopecia Paradoxical increased cortisol secretion on dexamethasone suppression test Fatigue Coarse facial features Mental deterioration Dorsocervical fat pad Muscle weakness Pigmented micronodular adrenocortical disease Facial asymmetry Anxiety Left ventricular hypertrophy Cardiomyopathy Edema Macronodular adrenal hyperplasia Kyphosis Sparse eyebrow Dolichocephaly Optic atrophy Hydrocephalus Mandibular prognathia Sparse and thin eyebrow Preauricular skin tag Broad forehead Astigmatism Myopia Pointed chin Celiac disease Abnormality of the musculature Scaphocephaly Patellar dislocation Megalencephaly Macrocephaly Delayed speech and language development Cupped ear Trismus Preauricular pit Radial head subluxation Bicuspid aortic valve Hydroureter Glossoptosis Stenosis of the external auditory canal Eyelid coloboma Cognitive impairment Mandibulofacial dysostosis Delayed eruption of primary teeth Lower eyelid coloboma Sparse eyelashes Intellectual disability Patellar subluxation Global developmental delay Seizures Adrenal medullary hypoplasia Cortical tubers Facial paralysis Blepharophimosis Finger syndactyly Paresthesia Weak voice Dysesthesia Postural instability Chronic pain Axonal degeneration Myalgia Scapular winging Narrow palpebral fissure Narrow face Hoarse voice Hypotelorism Sensory impairment Bifid uvula Paralysis Rigidity Cutis gyrata of scalp Abnormality of the skeletal system Pain Ptosis Flexion contracture Depressed nasal bridge Epicanthus Peripheral neuropathy Skeletal muscle atrophy Respiratory distress Deeply set eye Syndactyly Hyporeflexia Peripheral axonal degeneration Neuritis Hyperhidrosis Dental crowding Narrow mouth Upslanted palpebral fissure Peripheral nerve compression Hypoplasia of the maxilla Pituitary growth hormone cell adenoma Prolactin excess Pituitary adenoma Neoplasm of the endocrine system Menstrual irregularities Galactorrhea Pituitary prolactin cell adenoma Prolactinoma Acanthosis nigricans Increased serum insulin-like growth factor 1 Diabetes mellitus Proximal muscle weakness Hirsutism Increased body weight Acne Emotional lability Growth hormone excess Epidermal acanthosis Fragile skin Ventricular hypertrophy Hyperglycemia High palate Congestive heart failure Arrhythmia Hypertrophic cardiomyopathy Dilated cardiomyopathy Cardiomegaly Hydrops fetalis Headache Cardiac arrest Ventricular arrhythmia Pterygium Tricuspid regurgitation Right ventricular hypertrophy Left ventricular noncompaction Multiple pterygia Glucose intolerance Ecchymosis Everted lower lip vermilion Hearing impairment Scapular exostoses Protuberances at ends of long bones Madelung-like forearm deformities Cerebral cortical atrophy Carcinoma Hypertrichosis Adrenocortical carcinoma Micrognathia Enchondroma Wide nasal bridge Abnormality of the dentition Short nose Conductive hearing impairment Abnormality of the pinna Protruding ear Coloboma Rib exostoses Pelvic bone exostoses Adrenocortical adenoma Hypophosphatemia Abnormality of the foot Genu valgum Flat face Short metacarpal Coxa vara Hemangioma Sarcoma Short finger Osteochondroma Pathologic fracture Exostoses Osteosarcoma Madelung deformity Chondrosarcoma Multiple exostoses Cervical myelopathy Brachial plexus neuropathy



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