Anemia, and Growth hormone deficiency

Diseases related with Anemia and Growth hormone deficiency

In the following list you will find some of the most common rare diseases related to Anemia and Growth hormone deficiency that can help you solving undiagnosed cases.


Top matches:

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP W; FANCW


Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP W; FANCW

Low match PITUITARY APOPLEXY


The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

Low match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

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Other less relevant matches:

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Neoplasm
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI

Low match KEARNS-SAYRE SYNDROME


Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

Low match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Low match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Low match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low match BARTTER SYNDROME, TYPE 3; BARTS3


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

Top 5 symptoms//phenotypes associated to Anemia and Growth hormone deficiency

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Growth hormone deficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypothyroidism Ptosis Severe short stature Atrial septal defect Ventricular septal defect Intellectual disability Global developmental delay Hypertension Generalized hypotonia Agenesis of permanent teeth Hypodontia Delayed eruption of teeth Abnormality of the dentition Abnormality of the skeletal system Frontal bossing Brachydactyly Hepatomegaly Patent ductus arteriosus Cognitive impairment Pain Blue sclerae Hypogonadism Muscular hypotonia Diabetes mellitus Exocrine pancreatic insufficiency Strabismus Cryptorchidism Alopecia Small for gestational age Anal atresia Microdontia Failure to thrive Edema Abnormal heart morphology Micropenis Abnormal cardiac septum morphology Malabsorption Micrognathia Delayed skeletal maturation Intrauterine growth retardation Fatigue Absent thumb

Rare Symptoms - Less than 30% cases


Bundle branch block Snoring Short thumb Astigmatism Conductive hearing impairment Hypotension Abnormality of cardiovascular system morphology Microphthalmia Anteriorly placed anus Myopia Neoplasm Rectovaginal fistula Congenital hip dislocation Abnormality of the kidney Small face Pes planus Posteriorly rotated ears Pneumonia Clinodactyly Hernia Intellectual disability, mild Dilatation Hypospadias Arnold-Chiari malformation Horseshoe kidney Telangiectasia Osteolysis Flexion contracture Hyperaldosteronism Hypomagnesemia Cardiomegaly Polycythemia Muscle cramps Fever Dilated cardiomyopathy Cleft palate Retinopathy Paralysis Reduced visual acuity Feeding difficulties Seizures Hypoglycemia Vomiting Diarrhea Short nose Anal stenosis Hyperkeratosis Depressivity Cardiomyopathy Duodenal atresia Pallor Flat face Sleep apnea Hypergonadotropic hypogonadism Wide nasal bridge Intestinal malrotation Hypotrichosis Recurrent fractures Single transverse palmar crease Generalized muscle weakness Apnea Hepatosplenomegaly Skeletal dysplasia Proptosis Hypoplasia of the maxilla Kyphosis Splenomegaly Hydrocephalus Cafe-au-lait spot Hypocalcemia Hyperbilirubinemia Scoliosis Hydroureter Hypopituitarism Osteoporosis Prominent nose Small nail Joint laxity Hydronephrosis Epicanthus Abnormality of the nail Abnormal vertebral morphology Midface retrusion Postnatal growth retardation Ventriculomegaly Abnormality of the nares Aplasia cutis congenita of scalp Skin dimples Hallux valgus Reticulocytopenia Frontal upsweep of hair Renal potassium wasting Uterus didelphys Chronic rhinitis Calvarial skull defect Lacrimation abnormality Leukocytosis Anteverted nares Colonic diverticula Abnormality of cardiovascular system physiology Increased VLDL cholesterol concentration Increased urinary potassium Impaired reabsorption of chloride Hyperactive renin-angiotensin system Abnormal vagina morphology Elevated erythrocyte sedimentation rate Increased antibody level in blood Severe sensorineural hearing impairment Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Skin nodule Abnormal hair pattern Episodic fever Hypoproteinemia Scleroderma Lipoatrophy Absent lacrimal punctum Abnormality of the pancreas Microcytic anemia Histiocytosis Hyperglycemia Psoriasiform dermatitis Secondary hyperaldosteronism Midline skin dimples over anterior/posterior fontanelles Bilateral sensorineural hearing impairment Mitral valve prolapse Overgrowth Amenorrhea Low-set, posteriorly rotated ears Abnormality of the female genitalia Decreased testicular size Wide intermamillary distance Full cheeks Urethrovaginal fistula Epidermal acanthosis Pancreatic hypoplasia Hypoplasia of the primary teeth Camptodactyly Polyneuropathy Cleft upper lip Ichthyosis Lymphadenopathy Pectus carinatum Delayed puberty Dyspnea Epistaxis Stridor Hyperchloriduria Abnormality of the foot Lipodystrophy Azoospermia Plagiocephaly Septate vagina Type I diabetes mellitus Anasarca Elbow flexion contracture Aspiration Hyperreflexia Hypertelorism Gynecomastia Hyperpigmentation of the skin Malrotation of small bowel Gingival overgrowth Bronchiectasis Primary amenorrhea Abnormal sclera morphology Hypertrichosis Hypertriglyceridemia Hypokalemia Visual loss Broad finger Optic nerve coloboma Epibulbar dermoid Abnormality of the middle ear Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Metabolic alkalosis Cholangitis Mitral stenosis Common atrium Retinal coloboma Short 5th finger Depressed nasal tip Short columella Patellar dislocation Vitiligo Scaphocephaly Overweight Hashimoto thyroiditis Autoimmune thrombocytopenia IgA deficiency Thyroiditis Congenital hypothyroidism Increased circulating renin level Vertebral clefting Anorectal anomaly Autoimmune hemolytic anemia Anoperineal fistula Anorexia Dehydration Premature birth Chest pain Tachycardia Arthritis Polyhydramnios Congenital mitral stenosis Hypercalciuria Hypercalcemia Glomerulonephritis Rickets Polyuria Hyperkalemia Hyperphosphatemia Abnormality of the retinal vasculature Renal salt wasting Alkalosis Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Chondrocalcinosis Single ventricle Crossed fused renal ectopia Respiratory arrest Hypocalciuria Hyperplasia of the maxilla Immunodeficiency Azotemia Autoimmunity Coloboma Protruding ear Respiratory tract infection Abnormality of the pinna Feeding difficulties in infancy Intellectual disability, moderate Anxiety Jaundice Macrotia Nephrocalcinosis Obesity Recurrent infections Renal insufficiency Polymicrogyria High palate Abnormal facial shape Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Joint hypermobility Wide nose Cerebellar vermis atrophy Hypokalemic metabolic alkalosis Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Abnormality of the urinary system Abnormal dermatoglyphics Hypokalemic alkalosis Hirsutism Coarctation of aorta Hemolytic anemia Highly arched eyebrow Dental malocclusion Decreased antibody level in blood Otitis media Congenital diaphragmatic hernia Recurrent otitis media Purpura Heterotopia Renal dysplasia Long eyelashes Sparse and thin eyebrow Abnormal choroid morphology Increased body weight Fair hair Poikiloderma Facial cleft Delayed eruption of primary teeth Bone marrow hypocellularity Renal hypoplasia Vesicoureteral reflux Triangular face Neutropenia Agenesis of corpus callosum Thrombocytopenia Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Absent frontal sinuses Delayed eruption of permanent teeth Patent foramen ovale Persistence of primary teeth Abnormal pattern of respiration Low back pain Ridged nail Spondylolisthesis Osteolytic defects of the phalanges of the hand Osteopetrosis Abnormality of the clavicle Abnormality of the vertebral column Prominent occiput Osteomyelitis Abnormality of dental morphology Optic nerve hypoplasia Absent septum pellucidum Back pain Myopathy Muscular dystrophy Nyctalopia Acidosis Myoclonus Dementia Rod-cone dystrophy Cerebellar hypoplasia Elevated serum creatine phosphokinase Hyporeflexia Arrhythmia Encephalopathy Congestive heart failure Blindness Short 1st metacarpal Dysphagia Optic atrophy Skeletal muscle atrophy Peripheral neuropathy Muscle weakness Nystagmus Ataxia Chromosomal breakage induced by crosslinking agents Small pituitary gland Colpocephaly Abnormal renal morphology Fused cervical vertebrae Abnormality of the thorax Increased susceptibility to fractures Limb muscle weakness Hyponatremia Normochromic anemia Central diabetes insipidus Adrenocorticotropic hormone deficiency Pituitary hypothyroidism Excessive daytime somnolence Pituitary adenoma Prolactin excess Oligomenorrhea Increased circulating cortisol level Growth hormone excess Blurred vision Impotence Cranial nerve paralysis Abnormality of the cerebrospinal fluid Diplopia Coma Confusion Nausea and vomiting Photophobia Headache Abnormality of radial ray Megakaryocyte dysplasia Polysplenia Abnormality of the periventricular white matter Myelodysplasia Hypoplasia of the radius Galactorrhea Mydriasis Abnormality of pelvic girdle bone morphology Narrow chest Abnormality of the fingernails Narrow palate Wormian bones Increased bone mineral density Short toe Bone pain Abnormality of epiphysis morphology Abnormality of the face Abnormality of the skin Postural instability Short distal phalanx of finger Carious teeth Craniosynostosis Prolactin deficiency Hyperlordosis High forehead Brachycephaly Prominent forehead Malar flattening Macrocephaly Abnormal static automated perimetry test Abnormal caudate nucleus morphology Thunderclap headache Abnormal kinetic perimetry test Bitemporal hemianopia Trigeminal neuralgia Ophthalmoplegia Vertigo Hypoplastic nipples Aplasia/Hypoplasia of the thumb Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Aplasia/Hypoplasia of the patella Skin erosion Acantholysis Patellar aplasia Concave nasal ridge Osteosarcoma Absent radius Proportionate short stature Increased number of teeth Zonular cataract Skin vesicle Basal cell carcinoma Premature graying of hair Squamous cell carcinoma Pyloric stenosis Sarcoma Dermal atrophy Neoplasm of the skin Short palpebral fissure Cutaneous photosensitivity Microcornea Hypopigmentation of the skin Bilateral radial aplasia Forearm reduction defects Small hand Cholestasis Glycosuria Steatorrhea Dextrocardia Congenital sensorineural hearing impairment Clitoral hypertrophy Portal hypertension Abnormality of the genitourinary system Oligodontia Widely spaced teeth Severe muscular hypotonia Pointed chin Situs inversus totalis Sparse scalp hair Intellectual disability, severe Hypoplasia of penis Convex nasal ridge Underdeveloped nasal alae Abdominal distention Downturned corners of mouth Hepatic failure Abnormality of the liver Cleft lip Elevated hepatic transaminase Upslanted palpebral fissure Clinodactyly of the 5th finger Long philtrum Short foot Short palm Lactic acidosis Ventricular arrhythmia Progressive external ophthalmoplegia Primary adrenal insufficiency Renal tubular acidosis Basal ganglia calcification Adrenal insufficiency Hemiplegia/hemiparesis Ophthalmoparesis Abnormality of mitochondrial metabolism Bilateral ptosis Nasal speech Incoordination Atrioventricular block Ragged-red muscle fibers Increased CSF protein Reduced tendon reflexes Leukoencephalopathy External ophthalmoplegia EMG abnormality Abnormality of retinal pigmentation Left ventricular hypertrophy Ventricular hypertrophy Cerebral calcification Pigmentary retinopathy Memory impairment Syncope Sensory neuropathy Hypoparathyroidism Mitochondrial myopathy Nail dystrophy Second degree atrioventricular block Hip dislocation Corneal opacity Skin rash Sparse hair Erythema Kyphoscoliosis Mandibular prognathia Glaucoma Talipes equinovarus Cataract Low CSF 5-methyltetrahydrofolate Progressive intervertebral space narrowing Third degree atrioventricular block Heart block Adrenocorticotropin deficient adrenal insufficiency Folate deficiency Renal Fanconi syndrome First degree atrioventricular block Sideroblastic anemia Muscle fiber atrophy Titubation Abnormality of the mitochondrion Anterior hypopituitarism Stroke-like episode Gait imbalance Severe lactic acidosis Abnormality of prostaglandin metabolism



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